Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GRIK4_chr11_120506748_120993906	120793839	AGAGGGGA others(105): Show AGAGGGGAAGGGCAGTGTTAGGGCTGAGAGCCAGGTGATGGTTGGAGGAG AAGAGCGGTATTAGGGGCAGAGAGCCAGGCGGTGTTTAGGGGCTGAGAGC AGGTAGATGGTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	126	0.0079	-112	c.83- others(15): Show c.83-8842_83-8731del	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRK5_chr10_119202571_119464745	119394577	CTGTGTGT others(105): Show CTGTGTGTGGGTGTGTGTCTGTGTGTGGGCACGTGTATGTTTGGGTGTGT GGGTGTGTGTGTGGGTGTGTGTGTGGGTGTGTGTATCTGTGTCTGTGGGC ACGTGTGTGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02647.hp2 HG02809.hp2 others(4): Show HG02280.hp2 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0004 a0001c0004t0001 a0001c0004t0011 others(4): Show a0001c0001t0004 a0001c0004t0001 a0001c0004t0011 a0002c0005t0001 a0002c0005t0007 a0002c0005t0010 a0002c0005t0083	a0001c0001t0004g0085 a0001c0004t0001g0024 a0001c0004t0011g0025 others(4): Show a0001c0001t0004g0085 a0001c0004t0001g0024 a0001c0004t0011g0025 a0002c0005t0001g0055 a0002c0005t0007g0141 a0002c0005t0010g0022 a0002c0005t0083g0049	7	149	0.0470	-112	c.262 others(17): Show c.262-2102_262-1991del	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GZMM_chr19_539053_554922	540194	CCCCCCGG others(105): Show CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTAGAATCCGGAGGC CGGGGTGGCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	396	0.0025	-112	c.-38 others(11): Show c.-3877_-3766del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3858		chr19	TogoVar
HACL1_chr3_15555699_15606569	15592913	CATGTGTG others(105): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01257.hp2 HG01258.hp1 others(21): Show HG00099.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02165.hp1 HG02486.hp2 HG02683.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG04184.hp2 NA18955.hp2 NA19054.hp2 NA19064.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0026 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0298 a0001c0002t0001g0333	24	413	0.0581	-112	c.228 others(17): Show c.228-1345_228-1234del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HDAC4_chr2_239043168_239406020	239347978	GCACTGCT others(105): Show GCACTGCTTCCTATCGAGAGCATCATCCCGGTGACCACAGACACGTCCCA GCAAATCCACTGCTTCCTATCGAGAGCATCATCCCGGTGACCACAGACAC GTCCCAGCAAATC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 NA19240.hp2 HG02818.hp1 HG02976.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0062 a0001c0001t0001 a0001c0001t0004 a0001c0004t0062	a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0077 a0001c0001t0001g0231 a0001c0001t0004g0232 a0001c0004t0062g0077	3	236	0.0127	-112	c.22+ others(15): Show c.22+4588_22+4699del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26			chr2	TogoVar
HRAS_chr11_527242_540576	530670	GGAGTGTG others(105): Show GGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCC TGGAGAGAAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 NA18945.hp1 NA18950.hp1 others(7): Show HG02132.hp2 NA18945.hp1 NA18950.hp1 NA18963.hp1 NA18965.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp2 NA19056.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	361	0.0277	-112	c.17 others(11): Show c.1746_*1857del	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1571		chr11	TogoVar
HRC_chr19_49146198_49160396	49156858	CCTCTCTG others(105): Show CCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTCTGTCCTCCTCTCTC TCTGGGTCTCTGTTCCCCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGG TCTCTGTCCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(132): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18967.hp1 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0007 others(15): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0018 a0021 a0027 a0030 a0032 a0035 a0037 a0038	a0001c0001 a0001c0010 a0001c0026 others(19): Show a0001c0001 a0001c0010 a0001c0026 a0002c0002 a0002c0045 a0007c0007 a0008c0008 a0009c0009 a0010c0056 a0011c0011 a0012c0014 a0012c0036 a0013c0013 a0015c0023 a0018c0025 a0021c0022 a0027c0053 a0030c0047 a0032c0055 a0035c0051 a0037c0044 a0038c0046	a0001c0001t0001 a0001c0010t0001 a0001c0026t0001 others(19): Show a0001c0001t0001 a0001c0010t0001 a0001c0026t0001 a0002c0002t0001 a0002c0045t0001 a0007c0007t0001 a0008c0008t0001 a0009c0009t0001 a0010c0056t0001 a0011c0011t0001 a0012c0014t0001 a0012c0036t0001 a0013c0013t0001 a0015c0023t0001 a0018c0025t0001 a0021c0022t0001 a0027c0053t0001 a0030c0047t0001 a0032c0055t0001 a0035c0051t0001 a0037c0044t0001 a0038c0046t0001	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0010t0001g0012 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0010t0001g0012 a0001c0026t0001g0074 a0002c0002t0001g0002 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0033 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0045t0001g0067 a0007c0007t0001g0007 a0008c0008t0001g0008 a0009c0009t0001g0009 a0010c0056t0001g0081 a0011c0011t0001g0031 a0011c0011t0001g0032 a0012c0014t0001g0035 a0012c0014t0001g0073 a0012c0036t0001g0048 a0013c0013t0001g0020 a0015c0023t0001g0030 a0018c0025t0001g0036 a0021c0022t0001g0029 a0027c0053t0001g0078 a0030c0047t0001g0069 a0032c0055t0001g0080 a0035c0051t0001g0076 a0037c0044t0001g0064 a0038c0046t0001g0068	135	402	0.3358	-112	c.-17 others(11): Show c.-1733_-1622del	HRC	ENSG00000130528.12	transcript	ENST00000252825.9	protein_coding		1463		chr19	TogoVar
HUNK_chr21_31868020_32009064	31918955	TTGAGGGG others(105): Show TTGAGGGGCTGGACTGAGCGGTATGAGGAGGAGGGGCTGGACTGAGCGGT ATGAGGAGGAGGGGCTGGACTGAGCGGTATGAGGAGGAGGGGCTGGACTG AGCGGTATGAGGA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG01891.hp2 others(49): Show HG00741.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0022 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0034 others(22): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0034 a0001c0001t0064 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0014 a0001c0002t0017 a0001c0002t0021 a0001c0002t0023 a0001c0002t0033 a0001c0002t0044 a0001c0004t0008 a0001c0004t0011 a0001c0004t0036 a0001c0004t0053 a0001c0005t0015 a0001c0008t0007 a0001c0008t0030 a0001c0008t0031 a0001c0014t0023 a0001c0015t0048 a0001c0022t0017 a0002c0003t0051	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0032 others(49): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0175 a0001c0001t0001g0250 a0001c0001t0012g0067 a0001c0001t0012g0068 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0034g0147 a0001c0001t0064g0050 a0001c0002t0005g0011 a0001c0002t0005g0017 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0240 a0001c0002t0006g0012 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0073 a0001c0002t0006g0080 a0001c0002t0007g0046 a0001c0002t0014g0217 a0001c0002t0017g0098 a0001c0002t0017g0155 a0001c0002t0021g0308 a0001c0002t0023g0223 a0001c0002t0033g0066 a0001c0002t0044g0282 a0001c0004t0008g0075 a0001c0004t0008g0096 a0001c0004t0008g0251 a0001c0004t0011g0016 a0001c0004t0011g0028 a0001c0004t0011g0047 a0001c0004t0036g0150 a0001c0004t0053g0202 a0001c0005t0015g0008 a0001c0008t0007g0252 a0001c0008t0007g0269 a0001c0008t0030g0064 a0001c0008t0031g0065 a0001c0014t0023g0009 a0001c0015t0048g0283 a0001c0022t0017g0020 a0002c0003t0051g0029	52	326	0.1595	-112	c.262 others(17): Show c.262-5456_262-5345del	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31919012	GGAGGGGC others(105): Show GGAGGGGCTGGACTGAGCGGTATGAGGAGGAGGGGCTGGACTGAGCGGTA TGAGGATGAGGGGCTGGACTGAGCGGTATGAGGAGGAGGGGCTGGACTGA GCGGTATGAGGAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG02717.hp2 HG01243.hp1 HG01346.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0014 a0001c0005t0015 a0001c0001t0001 a0001c0002t0014 a0001c0005t0015	a0001c0001t0001g0007 a0001c0002t0014g0054 a0001c0005t0015g0006 a0001c0001t0001g0007 a0001c0002t0014g0054 a0001c0005t0015g0006	3	297	0.0101	-112	c.262 others(17): Show c.262-5401_262-5290del	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
IBA57_chr1_228160804_228187257	228174400	GCTGTGGG others(105): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01123.hp2 HG01934.hp2 others(7): Show HG01071.hp1 HG01123.hp2 HG01934.hp2 HG02145.hp1 HG02300.hp1 HG02647.hp2 HG02735.hp2 NA18947.hp2 NA18999.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0042 a0001c0001t0084 a0001c0001t0100 a0002c0008t0001	a0001c0001t0001g0002 a0001c0001t0006g0002 a0001c0001t0010g0002 others(6): Show a0001c0001t0001g0002 a0001c0001t0006g0002 a0001c0001t0010g0002 a0001c0001t0011g0022 a0001c0001t0042g0010 a0001c0001t0042g0020 a0001c0001t0084g0139 a0001c0001t0100g0002 a0002c0008t0001g0099	10	414	0.0242	-112	c.342 others(15): Show c.342-288_342-177del	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP4B_chr4_142018160_142851301	142245989	CATATATA others(105): Show CATATATATGTGTATGTATACACACATGTGTGTATGTACACACACGTGTG TGTATACACACATTATATATATGTGTGTGTGTATACACACATTATATATA TGTGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	80	0.0125	-112	c.689 others(17): Show c.689-8090_689-7979del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
INPP5K_chr17_1489577_1521612	1508922	GGTCTGCA others(105): Show GGTCTGCAGACCCAGGCTCACTCGTGGGGGTCAGCGTGGGGCAGAGGGCG GGGAACAGTCTGCAGACCCAGGCTCACTCGTGGCGGTCAGCGTGGGGCAG AGGGCGGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03710.hp2 HG03491.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0222 a0001c0001t0005g0223	2	351	0.0057	-112	c.554 others(15): Show c.554+144_554+255del	INPP5K	ENSG00000132376.20	transcript	ENST00000421807.7	protein_coding	5/11			chr17	TogoVar
IQCE_chr7_2553979_2619728	2595679	CCCTGGAG others(105): Show CCCTGGAGGGTCGCAGCCATGCTCTGCTCACCATGGCCGGCGCTGCCTGC ACTTGCCTCCCTGGAGGGTCGCAGCCATGCTCCGGTCACCATGGCCGGTG CTGCACTTGCCTT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0414 a0001c0011t0001g0414	1	414	0.0024	-112	c.144 others(17): Show c.1440+743_1440+854del	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCG_chr3_197884077_197964991	197921011	TGACTACT others(105): Show TGACTACTGGTTTTCAGTAACTCCGGGGATTTAACCTGATTTCATCTTGG TCGACCCGACTACTGGTTTTCAGTAACTCCGGGGATTTCACCTGATTTCA TCTTGGTCGACCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02280.hp1 others(9): Show HG01255.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02895.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0011 a0002c0002 a0004c0011	a0002c0002t0001 a0004c0011t0001 a0002c0002t0001 a0004c0011t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0060 others(9): Show a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0115 a0004c0011t0001g0096	12	195	0.0615	-112	c.726 others(17): Show c.726+4901_726+5012del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11			chr3	TogoVar
IQCG_chr3_197884077_197964991	197921886	CTGATTTC others(105): Show CTGATTTCATCTTGGTTGACCCGACTACTGGTTTTCAGTAACTCTGGGGA TTTCACCTGGTTTCATCTTGGTTGACCTGACTACTGGTTTTCAGTAACTC TGGCGATTTAACT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	278	0.0036	-112	c.726 others(17): Show c.726+4026_726+4137del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11			chr3	TogoVar
ITGA8_chr10_15508954_15724922	15694280	CATCAGAT others(105): Show CATCAGATAATATATCATATATATGATAATATATCATATATATGATAATA TATCATATATCAGATAATATATCATATATCAGATAATATATCATATATGA TAATATATCACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02145.hp2 others(8): Show HG01109.hp1 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0015	a0001c0001 a0001c0008 a0001c0011 others(3): Show a0001c0001 a0001c0008 a0001c0011 a0002c0006 a0004c0004 a0015c0017	a0001c0001t0041 a0001c0008t0009 a0001c0011t0001 others(5): Show a0001c0001t0041 a0001c0008t0009 a0001c0011t0001 a0002c0006t0018 a0004c0004t0003 a0004c0004t0009 a0004c0004t0014 a0015c0017t0008	a0001c0001t0041g0220 a0001c0008t0009g0046 a0001c0011t0001g0048 others(8): Show a0001c0001t0041g0220 a0001c0008t0009g0046 a0001c0011t0001g0048 a0002c0006t0018g0044 a0002c0006t0018g0045 a0004c0004t0003g0047 a0004c0004t0003g0051 a0004c0004t0009g0043 a0004c0004t0009g0049 a0004c0004t0014g0052 a0015c0017t0008g0050	11	215	0.0512	-112	c.344 others(17): Show c.344-6354_344-6243del	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	GTGTCACT others(105): Show GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG01358.hp1 HG01952.hp1 others(12): Show HG00733.hp1 HG01358.hp1 HG01952.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02132.hp1 HG02293.hp1 HG03225.hp2 HG03239.hp1 HG03654.hp2 NA18967.hp1 NA18998.hp1 NA19074.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0100 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0053 a0001c0001t0002g0087 a0001c0001t0002g0107 a0001c0001t0009g0008 a0001c0001t0017g0012 a0001c0001t0017g0139 a0001c0001t0030g0026	15	166	0.0904	-112	c.69 others(9): Show c.691_*802del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	691		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406172	AGTCTTCC others(105): Show AGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0117 a0001c0001t0014g0117	1	164	0.0061	-112	c.55 others(9): Show c.550_*661del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	550		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406228	CGTCTTCC others(105): Show CGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG01891.hp1 others(11): Show HG00741.hp2 HG01346.hp1 HG01891.hp1 HG01952.hp2 HG02056.hp1 HG02165.hp1 HG02280.hp1 HG02698.hp1 HG03041.hp2 HG03225.hp2 HG04184.hp2 NA18967.hp1 NA18971.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0027 a0001c0001t0030 a0001c0001t0054	a0001c0001t0002g0002 a0001c0001t0002g0079 a0001c0001t0002g0087 others(7): Show a0001c0001t0002g0002 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0001t0002g0107 a0001c0001t0003g0166 a0001c0001t0018g0178 a0001c0001t0018g0184 a0001c0001t0027g0014 a0001c0001t0030g0026 a0001c0001t0054g0061	14	233	0.0601	-112	c.49 others(9): Show c.494_*605del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	494		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406449	TCTAGTCT others(105): Show TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG00140.hp1 HG01256.hp2 HG01258.hp2 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0162 a0001c0001t0001g0001 a0001c0001t0003g0005 a0001c0001t0003g0162	5	273	0.0183	-112	c.27 others(9): Show c.273_*384del	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	273		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173736	TGTGGTGG others(105): Show TGTGGTGGTCTGTGGTGTGTCTCTGGTGGTCTGTGGTGTGTCTGTGATGT GTTAGTGGTGGTGTGTGGTGGCCTGTGGTATGTTCATGGTGGTGTGTGTG TGGTGTGTCTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0024 a0001c0006t0024	a0001c0006t0024g0155 a0001c0006t0024g0155	1	156	0.0064	-112	c.11 others(21): Show c.1103+4709_*1103+4820del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173821	ATGGTGGT others(105): Show ATGGTGGTGTGTGTGTGGTGTGTCTGTGGTGGTCTGTGGTGTGTCTCTGG TGGTCTGTGGTGTGTCTGTGATGTGTTAGTGGTGGTGTGTGGTGGCCTGT GGTATGTTCATGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(83): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01884.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA19081.hp1 NA19081.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0013 a0001c0015 others(31): Show a0001c0001 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0034 a0001c0040 a0002c0005 a0002c0008 a0002c0010 a0002c0023 a0002c0026 a0002c0037 a0003c0002 a0003c0003 a0003c0018 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0024 a0004c0027 a0004c0028 a0004c0030 a0004c0033 a0004c0036 a0004c0045 a0006c0041 a0007c0039 a0008c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0013t0001 a0001c0013t0015 a0001c0013t0023 a0001c0015t0001 a0001c0015t0002 a0001c0017t0029 a0001c0019t0001 a0001c0022t0002 a0001c0034t0001 a0001c0040t0002 a0002c0005t0001 a0002c0005t0002 a0002c0008t0017 a0002c0010t0002 a0002c0010t0009 a0002c0023t0001 a0002c0026t0001 a0002c0026t0025 a0002c0037t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0019 a0003c0003t0001 a0003c0003t0002 a0003c0003t0011 a0003c0018t0002 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0007t0002 a0004c0007t0011 a0004c0009t0002 a0004c0011t0001 a0004c0014t0001 a0004c0024t0002 a0004c0027t0001 a0004c0028t0002 a0004c0030t0027 a0004c0033t0002 a0004c0036t0001 a0004c0045t0001 a0006c0041t0026 a0007c0039t0002 a0008c0044t0002	a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 others(83): Show a0001c0001t0001g0117 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0020g0120 a0001c0013t0001g0094 a0001c0013t0001g0130 a0001c0013t0015g0148 a0001c0013t0023g0078 a0001c0015t0001g0017 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0017t0029g0012 a0001c0019t0001g0154 a0001c0022t0002g0061 a0001c0022t0002g0080 a0001c0034t0001g0021 a0001c0040t0002g0029 a0002c0005t0001g0016 a0002c0005t0001g0047 a0002c0005t0002g0060 a0002c0005t0002g0095 a0002c0008t0017g0121 a0002c0010t0002g0157 a0002c0010t0002g0158 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0023t0001g0058 a0002c0026t0001g0106 a0002c0026t0025g0043 a0002c0037t0001g0140 a0003c0002t0001g0001 a0003c0002t0001g0002 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0114 a0003c0002t0001g0124 a0003c0002t0002g0107 a0003c0002t0002g0111 a0003c0002t0019g0093 a0003c0003t0001g0063 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0132 a0003c0003t0002g0056 a0003c0003t0011g0062 a0003c0018t0002g0027 a0003c0018t0002g0118 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0003c0051t0001g0003 a0004c0007t0001g0108 a0004c0007t0001g0123 a0004c0007t0002g0025 a0004c0007t0002g0122 a0004c0007t0011g0067 a0004c0009t0002g0054 a0004c0009t0002g0055 a0004c0009t0002g0065 a0004c0009t0002g0075 a0004c0009t0002g0146 a0004c0011t0001g0119 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0011t0001g0137 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0024t0002g0153 a0004c0027t0001g0066 a0004c0028t0002g0064 a0004c0030t0027g0084 a0004c0033t0002g0028 a0004c0036t0001g0039 a0004c0045t0001g0090 a0006c0041t0026g0019 a0007c0039t0002g0134 a0008c0044t0002g0031	86	155	0.5548	-112	c.11 others(21): Show c.1103+4794_*1103+4905del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KALRN_chr3_124028369_124731325	124628159	CCCTTCCT others(105): Show CCCTTCCTTCCTTCCCTCCCTCCCTCCTTCATTCCCTCCCTCCCCCCCTC CTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTCTTCTTTCCT TCCCTCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp1 HG02615.hp1 HG03225.hp1	a0001 a0001	a0001c0023 a0001c0040 a0001c0023 a0001c0040	a0001c0023t0018 a0001c0040t0032 a0001c0023t0018 a0001c0040t0032	a0001c0023t0018g0045 a0001c0040t0032g0100 a0001c0023t0018g0045 a0001c0040t0032g0100	2	113	0.0177	-112	c.518 others(19): Show c.5183-4214_5183-4103del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	15048691	GGTCGTTG others(105): Show GGTCGTTGATCCTTGGTCGTTGGTCCTGGGTCGTTGGTCATGGGTCGTCG ATCCTGGGTCGTCGATCCTGGGTCGTCGATCCTGGGTCGTTGATCCTTGG TCATTGGTCCTGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0115 a0001c0001t0009g0115	1	146	0.0068	-112	c.726 others(17): Show c.726+4540_726+4651del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63407509	CGGGGGAC others(105): Show CGGGGGACCCAGGCTAGTCCCAGGAGATGTGGGGACCCGGGCTGCTCCCA GGAAATGGGGGGGCCCAGGCTGGTTCCAGGAAACAGGAGAGACCCAGGCT AGTCCCAGGAAAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18983.hp2 NA19057.hp1 NA18973.hp1 NA18983.hp2 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0018 a0002c0001t0002g0124 a0002c0001t0002g0127 a0002c0001t0002g0018 a0002c0001t0002g0124 a0002c0001t0002g0127	3	328	0.0091	-112	c.188 others(17): Show c.1888-246_1888-135del	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	16/16			chr20	TogoVar
KHDRBS2_chr6_61674961_62291225	61954630	ATATACAC others(105): Show ATATACACATACATACTTATGTATACATACATATGTGTATATACACATAC ATACTTATGTATACATACATATGTGTATATACACATGCATACTTATGTAT ACATACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp1 HG02897.hp1 others(5): Show HG02258.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0009 a0001c0003t0003 a0001c0001t0009 a0001c0003t0003	a0001c0001t0009g0050 a0001c0001t0009g0084 a0001c0001t0009g0085 others(5): Show a0001c0001t0009g0050 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083	8	242	0.0331	-112	c.483 others(19): Show c.483+23324_483+23435del	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KLHL17_chr1_955584_970719	964622	AGGGGGGC others(105): Show AGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGG GTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGG GATGTGCTGCCGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(59): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02148.hp1 HG02293.hp2 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18957.hp1 NA18966.hp2 NA18968.hp2 NA18990.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19063.hp1 NA19075.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0003 a0001c0002t0003 a0001c0002t0012 others(2): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0012 a0001c0002t0013 a0001c0018t0004	a0001c0001t0003g0021 a0001c0002t0003g0002 a0001c0002t0003g0038 others(6): Show a0001c0001t0003g0021 a0001c0002t0003g0002 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0012g0039 a0001c0002t0013g0002 a0001c0018t0004g0032	62	428	0.1449	-112	c.170 others(16): Show c.1700+94_1700+205del	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
KSR2_chr12_117448012_117973990	117793144	ATATACCA others(105): Show ATATACCAATATGCACGCACACCAACATGTACACACACCAATGTGCACAC ATACACACCAACATGCACACACCCTCACACCAACATGCACACACACCAAC CTGCACACACCCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG03486.hp1 HG02109.hp2 HG02615.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0013 a0001c0003t0006 a0001c0008t0038 a0001c0001t0013 a0001c0003t0006 a0001c0008t0038	a0001c0001t0013g0120 a0001c0003t0006g0141 a0001c0008t0038g0004 a0001c0001t0013g0120 a0001c0003t0006g0141 a0001c0008t0038g0004	3	194	0.0155	-112	c.473 others(19): Show c.473-31732_473-31621del	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	3/19			chr12	TogoVar
LDAH_chr2_20679031_20828101	20743301	TCCAAGTC others(105): Show TCCAAGTCCACTTTTTTTTTTTTTTTTATTATACTTTAAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02145.hp2 HG02451.hp2 others(7): Show HG01346.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0041 a0001c0001t0001g0202 a0001c0001t0001g0233 others(7): Show a0001c0001t0001g0041 a0001c0001t0001g0202 a0001c0001t0001g0233 a0001c0001t0003g0067 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0218 a0001c0001t0006g0239 a0001c0001t0006g0242 a0001c0001t0007g0203	10	256	0.0391	-112	c.469 others(17): Show c.469-3208_469-3097del	LDAH	ENSG00000118961.15	transcript	ENST00000237822.8	protein_coding	4/6			chr2	TogoVar
LDHAL6A_chr11_18450856_18484601	18467902	TATATATA others(105): Show TATATATATATATATATACACACACATATATATATACACACACATATATA TATACGTATATATATACGTATATATATACGTATATATATGCATATATATA CGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18983.hp2 NA18971.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	412	0.0049	-112	c.418 others(17): Show c.418+2102_418+2213del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LDHAL6A_chr11_18450856_18484601	18467937	ACACACAC others(105): Show ACACACACATATATATATACGTATATATATACGTATATATATACGTATAT ATATGCATATATATACGTATATATATACATATATATACGTATATATATAT ACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0305 a0001c0001t0012g0305	1	416	0.0024	-112	c.418 others(17): Show c.418+2128_418+2239del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6			chr11	TogoVar
LENG8_chr19_54444199_54467016	54459429	ATGGTCAC others(105): Show ATGGTCACAGCATGGGGGCCTTGAGTGCCTGGCCAGGTGGCCCTCCACGT GAGGTCATGGTCACAGCATGGAGGCCTTGAGAGCCTGGCCAGGTGGCCCT CCACGTGAGGTTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG02622.hp2 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0110 a0001c0008t0001g0111	2	430	0.0047	-112	c.224 others(18): Show c.2240+933_2240+1044del	LENG8	ENSG00000167615.18	transcript	ENST00000326764.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
LENG8_chr19_54444199_54467016	54459454	TGCCTGGC others(105): Show TGCCTGGCCAGGTGGCCCTCCACGTGAGGTCATGGTCACAGCATGGAGGC CTTGAGAGCCTGGCCAGGTGGCCCTCCACGTGAGGTTGTGGTCACAGCAT GGGGGCCTTGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	430	0.0023	-112	c.224 others(19): Show c.2240+1010_2240+1121del	LENG8	ENSG00000167615.18	transcript	ENST00000326764.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
LENG9_chr19_54456732_54468778	54459429	ATGGTCAC others(105): Show ATGGTCACAGCATGGGGGCCTTGAGTGCCTGGCCAGGTGGCCCTCCACGT GAGGTCATGGTCACAGCATGGAGGCCTTGAGAGCCTGGCCAGGTGGCCCT CCACGTGAGGTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG02622.hp1 HG03041.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0000 a0003c0014t0001g0000	2	420	0.0048	-112	c.25 others(11): Show c.2549_*2660del	LENG9	ENSG00000275183.2	transcript	ENST00000611161.2	protein_coding		2302		chr19	TogoVar
LENG9_chr19_54456732_54468778	54459454	TGCCTGGC others(105): Show TGCCTGGCCAGGTGGCCCTCCACGTGAGGTCATGGTCACAGCATGGAGGC CTTGAGAGCCTGGCCAGGTGGCCCTCCACGTGAGGTTGTGGTCACAGCAT GGGGGCCTTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0000 a0003c0004t0005g0000	1	420	0.0024	-112	c.25 others(11): Show c.2524_*2635del	LENG9	ENSG00000275183.2	transcript	ENST00000611161.2	protein_coding		2277		chr19	TogoVar
LHFPL2_chr5_78480230_78653772	78592621	TACACACA others(105): Show TACACACACACACACACACATTACTCTTCAACTTAGTGAAAAATTCAGAT ACACACACACACACACACACACACACATTACTCTTCAACTTAGTGAAAAA TTCAGATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(75): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp2 HG01934.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02735.hp2 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp2 HG03654.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18941.hp1 NA18955.hp2 NA18957.hp1 NA18962.hp1 NA18977.hp1 NA18986.hp1 NA18993.hp1 NA18994.hp1 NA19002.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0001c0001t0037 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 others(75): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0200 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0236 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0053 a0001c0001t0004g0098 a0001c0001t0004g0206 a0001c0001t0004g0235 a0001c0001t0005g0060 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0092 a0001c0001t0005g0114 a0001c0001t0005g0175 a0001c0001t0005g0182 a0001c0001t0005g0193 a0001c0001t0005g0222 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0006g0063 a0001c0001t0006g0177 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0106 a0001c0001t0007g0224 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0008g0131 a0001c0001t0010g0034 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0155 a0001c0001t0010g0188 a0001c0001t0010g0208 a0001c0001t0010g0215 a0001c0001t0012g0015 a0001c0001t0012g0105 a0001c0001t0013g0061 a0001c0001t0025g0162 a0001c0001t0026g0168 a0001c0001t0028g0234 a0001c0001t0034g0153 a0001c0001t0037g0245 a0001c0002t0002g0038 a0001c0002t0002g0141 a0001c0002t0003g0143 a0001c0002t0003g0187	78	133	0.5865	-112	c.-24 others(21): Show c.-244-27862_-244-27751del	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	2/4			chr5	TogoVar
LMF1_chr16_848634_975984	960534	ACACGGGA others(105): Show ACACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCAC GACCCAGACACAGACTCACGGTGACAACACGGGATCACGACCCAGACAGA CTCACGGTGACAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03195.hp1 HG02698.hp1 HG03195.hp1	a0001 a0020 a0001 a0020	a0001c0002 a0020c0040 a0001c0002 a0020c0040	a0001c0002t0001 a0020c0040t0004 a0001c0002t0001 a0020c0040t0004	a0001c0002t0001g0051 a0020c0040t0004g0270 a0001c0002t0001g0051 a0020c0040t0004g0270	2	134	0.0149	-112	c.194 others(17): Show c.194-5980_194-5869del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRK2_chr12_40219997_40374285	40247505	CATGTATA others(105): Show CATGTATATAAATATACATACAAATGTATATAAATATACATATTTATACA CAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATACA TATTTATACACAG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01255.hp1 others(7): Show HG01071.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG02056.hp2 HG02135.hp2 HG03139.hp2 HG03239.hp1 NA19078.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0015 a0023	a0001c0003 a0003c0017 a0005c0007 others(3): Show a0001c0003 a0003c0017 a0005c0007 a0008c0058 a0015c0032 a0023c0048	a0001c0003t0003 a0003c0017t0001 a0005c0007t0002 others(3): Show a0001c0003t0003 a0003c0017t0001 a0005c0007t0002 a0008c0058t0009 a0015c0032t0001 a0023c0048t0001	a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0172 others(7): Show a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0172 a0003c0017t0001g0312 a0005c0007t0002g0045 a0005c0007t0002g0070 a0008c0058t0009g0142 a0015c0032t0001g0084 a0015c0032t0001g0085 a0023c0048t0001g0313	10	221	0.0452	-112	c.839 others(17): Show c.839-2301_839-2190del	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LYRM4_chr6_5103419_5265950	5135150	GCTGTGGA others(105): Show GCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACT CCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGG TTCACTCCCGGGA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	278	0.0036	-112	c.208 others(19): Show c.208-25771_208-25660del	LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2			chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991341	ACCGCTGG others(105): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0132 a0001c0003t0001g0132	1	260	0.0038	-112	c.141 others(21): Show c.1416+10612_1416+10723del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MBTPS1_chr16_84048763_84121942	84050879	CCGCATGT others(105): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGGCATGTGGGTAAG GAGAGCTGCAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02572.hp2 others(8): Show HG01433.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG03195.hp1 HG03225.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0006 a0010c0014t0006 a0001c0001t0006 a0010c0014t0006	a0001c0001t0006g0029 a0001c0001t0006g0178 a0001c0001t0006g0179 others(8): Show a0001c0001t0006g0029 a0001c0001t0006g0178 a0001c0001t0006g0179 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0186 a0010c0014t0006g0189	11	422	0.0261	-112	c.34 others(11): Show c.3458_*3569del	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2883		chr16	TogoVar
MELTF_chr3_196996740_197034817	197032814	TGGGACAT others(105): Show TGGGACATGAGCACCTGCAGTAGTGTGATGTCAGAGGATGTTACACTCTT GCTGATGGGTTGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGAAGATTT TACACTCTTGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(173): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0010 a0014 a0015 a0018	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0018 a0001c0020 a0002c0004 a0003c0006 a0003c0035 a0004c0015 a0005c0010 a0010c0031 a0014c0023 a0015c0019 a0018c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0053 a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0026 a0001c0002t0031 a0001c0002t0055 a0001c0003t0001 a0001c0003t0015 a0001c0014t0003 a0001c0018t0001 a0001c0020t0001 a0002c0004t0007 a0003c0006t0020 a0003c0035t0001 a0004c0015t0010 a0005c0010t0001 a0010c0031t0001 a0014c0023t0001 a0015c0019t0001 a0018c0024t0005	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0244 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0059 a0001c0001t0002g0105 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0258 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0202 a0001c0001t0003g0293 a0001c0001t0005g0003 a0001c0001t0005g0229 a0001c0001t0005g0257 a0001c0001t0005g0262 a0001c0001t0008g0172 a0001c0001t0008g0190 a0001c0001t0008g0196 a0001c0001t0008g0216 a0001c0001t0008g0223 a0001c0001t0010g0191 a0001c0001t0011g0045 a0001c0001t0011g0165 a0001c0001t0011g0238 a0001c0001t0012g0020 a0001c0001t0012g0055 a0001c0001t0012g0264 a0001c0001t0014g0129 a0001c0001t0015g0058 a0001c0001t0016g0227 a0001c0001t0016g0285 a0001c0001t0018g0243 a0001c0001t0018g0306 a0001c0001t0020g0256 a0001c0001t0022g0071 a0001c0001t0023g0056 a0001c0001t0023g0267 a0001c0001t0024g0228 a0001c0001t0024g0266 a0001c0001t0029g0057 a0001c0001t0030g0046 a0001c0001t0037g0204 a0001c0001t0038g0203 a0001c0001t0039g0277 a0001c0001t0053g0192 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0098 a0001c0002t0001g0126 a0001c0002t0001g0242 a0001c0002t0001g0286 a0001c0002t0004g0051 a0001c0002t0004g0200 a0001c0002t0004g0251 a0001c0002t0004g0287 a0001c0002t0008g0159 a0001c0002t0009g0034 a0001c0002t0009g0224 a0001c0002t0026g0160 a0001c0002t0031g0234 a0001c0002t0055g0248 a0001c0003t0001g0015 a0001c0003t0001g0198 a0001c0003t0001g0199 a0001c0003t0015g0128 a0001c0014t0003g0304 a0001c0018t0001g0219 a0001c0020t0001g0220 a0002c0004t0007g0177 a0002c0004t0007g0236 a0003c0006t0020g0211 a0003c0035t0001g0275 a0004c0015t0010g0217 a0004c0015t0010g0218 a0005c0010t0001g0183 a0005c0010t0001g0184 a0010c0031t0001g0232 a0014c0023t0001g0187 a0015c0019t0001g0167 a0018c0024t0005g0268	176	411	0.4282	-112	c.-32 others(11): Show c.-3224_-3113del	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		2998		chr3	TogoVar
MLPH_chr2_237482251_237560322	237556951	TCTCTCTG others(105): Show TCTCTCTGTTCTCTCTCCTCTCTCTCCCTCCCTCCCTCTCTCTCTCCCTC CCTCCCTCTCTCTCTGTTCTCTCTCCTCTCTCTCCCTCCCTCCCTCTCTC TCTCCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0219 a0004c0005t0004g0219	1	284	0.0035	-112	c.33 others(11): Show c.3360_*3471del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding		1630		chr2	TogoVar
MUC4_chr3_195741771_195816929	195752563	GAAACCGG others(105): Show GAAACCGGGAGAAGTGGCCCTCACCCTACATTCCACAGTGACAGAAGGTC GCTGAAGAAACCGGGAGAAGTGGCCCTCACCCTACATTCCACAGTGACAG AAGGTCGCTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	248	0.0040	-112	c.155 others(19): Show c.15509-229_15509-118del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	20/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195760530	AGGGGGCT others(105): Show AGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGTATGGAGTGAAGGGGGCTGGGAAGGCATCCAGCG CTAGGATGGACGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0064 a0064	a0064c0119 a0064c0119	a0064c0119t0008 a0064c0119t0008	a0064c0119t0008g0196 a0064c0119t0008g0196	1	248	0.0040	-112	c.148 others(19): Show c.14848+242_14848+353del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYADM_chr19_53862883_53881435	53880312	GTCAGAGA others(105): Show GTCAGAGAGACATAGAGAGACATTCATAGAGCCAGAGACACAGAGAGATT CATAGACATATAGAGAGATTCAGAGAGCCTGAATCACAGAGATTCACAGA GCCAAAGAGACAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(314): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 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 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0067 a0001c0001t0070 a0001c0001t0072 a0001c0006t0003 a0001c0007t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0040 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0041 a0001c0001t0003g0060 a0001c0001t0005g0001 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0008g0001 a0001c0001t0009g0002 a0001c0001t0010g0001 a0001c0001t0010g0018 a0001c0001t0012g0007 a0001c0001t0014g0001 a0001c0001t0015g0002 a0001c0001t0015g0014 a0001c0001t0015g0026 a0001c0001t0016g0013 a0001c0001t0017g0002 a0001c0001t0018g0009 a0001c0001t0018g0028 a0001c0001t0025g0008 a0001c0001t0026g0016 a0001c0001t0027g0001 a0001c0001t0028g0001 a0001c0001t0029g0001 a0001c0001t0030g0001 a0001c0001t0031g0036 a0001c0001t0032g0002 a0001c0001t0034g0001 a0001c0001t0035g0001 a0001c0001t0036g0001 a0001c0001t0037g0003 a0001c0001t0038g0001 a0001c0001t0041g0002 a0001c0001t0042g0002 a0001c0001t0043g0005 a0001c0001t0044g0043 a0001c0001t0046g0001 a0001c0001t0047g0004 a0001c0001t0052g0056 a0001c0001t0053g0009 a0001c0001t0055g0027 a0001c0001t0056g0001 a0001c0001t0057g0007 a0001c0001t0058g0007 a0001c0001t0059g0045 a0001c0001t0067g0046 a0001c0001t0070g0057 a0001c0001t0072g0001 a0001c0006t0003g0035 a0001c0007t0003g0012 a0002c0002t0002g0002 a0002c0002t0003g0002 a0002c0002t0040g0002 a0003c0004t0001g0001 a0004c0005t0001g0037	317	376	0.8431	-112	c.58 others(11): Show c.5815_*5926del	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		3878		chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085689	CTGCGTGG others(105): Show CTGCGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTG ATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGT CGTGATCTCTGCG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02818.hp2 HG01346.hp2 HG02818.hp2	a0001 a0004 a0001 a0004	a0001c0118 a0004c0153 a0001c0118 a0004c0153	a0001c0118t0002 a0004c0153t0001 a0001c0118t0002 a0004c0153t0001	a0001c0118t0002g0322 a0004c0153t0001g0126 a0001c0118t0002g0322 a0004c0153t0001g0126	2	373	0.0054	-112	c.164 others(17): Show c.1644+302_1644+413del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085955	CTTTGTGG others(105): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0172 a0019c0028t0001g0172	1	297	0.0034	-112	c.164 others(17): Show c.1644+567_1644+678del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57687772	TATATAAT others(105): Show TATATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATA TACACATATATATAATATGTGTGTACAATATACACATATATAATATGTGT GTACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01928.hp1 HG02015.hp2 others(2): Show HG00558.hp2 HG01928.hp1 HG02015.hp2 HG02615.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0001c0001t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0254 a0002c0002t0002g0057 a0002c0002t0004g0219	5	308	0.0162	-112	c.32 others(11): Show c.3275_*3386del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2409		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688905	TACAGAAT others(105): Show TACAGAATATATGTGTACAATGTACACATACAGAATATATGTGTACAATG TACACATACAGAATATATGTGTACAATGTACACATATATAATATATATGT GCACAATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02818.hp1 HG02886.hp1 others(2): Show HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0008 a0001c0003t0002 a0002c0002t0002 a0001c0001t0008 a0001c0003t0002 a0002c0002t0002	a0001c0001t0008g0329 a0001c0003t0002g0055 a0002c0002t0002g0059 others(2): Show a0001c0001t0008g0329 a0001c0003t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0082 a0002c0002t0002g0084	5	350	0.0143	-112	c.44 others(11): Show c.4408_*4519del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3542		chr15	TogoVar

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