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
OR2T6_chr1_248370746_248396811	248384448	CTCCTGAA others(129): Show CTCCTGAAGTGTTTCCTAATGTTATTGTCATGGGTAAAGCACTGCACTAC CCTGAGTGTGCTCATCCTATCCTGATGTGTTTCCTAGTGTTATCATCATG GAGAAAGCACTGCACTAGCCTGAGTGTGCTCATCCTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02451.hp1 others(6): Show HG02055.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02886.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0044 a0001c0001t0006g0007 a0001c0001t0006g0044	9	403	0.0223	-136	c.-15 others(17): Show c.-158-245_-158-110del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR2T6_chr1_248370746_248396811	248384482	TAAAGCAC others(129): Show TAAAGCACTGCACTACCCTGAGTGTGCTCATCCTATCCTGATGTGTTTCC TAGTGTTATCATCATGGAGAAAGCACTGCACTAGCCTGAGTGTGCTCATC CTATCCTGAAGTGTTTCCTAGTGTTATCATCATGGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01981.hp2 others(23): Show HG01109.hp1 HG01261.hp1 HG01981.hp2 HG02055.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0002 a0004 a0009 others(1): Show a0002 a0004 a0009 a0011	a0002c0002 a0004c0004 a0004c0017 others(2): Show a0002c0002 a0004c0004 a0004c0017 a0009c0013 a0011c0014	a0002c0002t0005 a0002c0002t0008 a0004c0004t0007 others(6): Show a0002c0002t0005 a0002c0002t0008 a0004c0004t0007 a0004c0004t0015 a0004c0004t0018 a0004c0004t0024 a0004c0017t0007 a0009c0013t0005 a0011c0014t0031	a0002c0002t0005g0006 a0002c0002t0008g0013 a0002c0002t0008g0020 others(10): Show a0002c0002t0005g0006 a0002c0002t0008g0013 a0002c0002t0008g0020 a0004c0004t0007g0031 a0004c0004t0007g0033 a0004c0004t0007g0034 a0004c0004t0015g0021 a0004c0004t0018g0033 a0004c0004t0018g0068 a0004c0004t0024g0031 a0004c0017t0007g0034 a0009c0013t0005g0060 a0011c0014t0031g0062	26	403	0.0645	-136	c.-15 others(16): Show c.-158-214_-158-79del	OR2T6	ENSG00000198104.4	transcript	ENST00000641644.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685910	TCCCCCGC others(129): Show TCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp2 NA18950.hp2 HG01109.hp2 HG02723.hp2 NA18950.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0314 a0002c0002t0001g0194 a0002c0002t0001g0225 a0001c0001t0001g0314 a0002c0002t0001g0194 a0002c0002t0001g0225	3	362	0.0083	-136	c.981 others(17): Show c.981+1966_981+2101del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686107	TCCCCCGC others(129): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCA CAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	362	0.0028	-136	c.981 others(17): Show c.981+1769_981+1904del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686319	GAGAACAG others(129): Show GAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01358.hp1 others(17): Show HG00438.hp2 HG00673.hp2 HG01358.hp1 HG02027.hp2 HG02300.hp1 NA18942.hp2 NA18943.hp2 NA18957.hp2 NA18963.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0034 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0322 a0001c0001t0001g0340 a0001c0001t0002g0035	20	362	0.0553	-136	c.981 others(17): Show c.981+1557_981+1692del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686469	GCACAGCG others(129): Show GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCA GCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp1 HG01099.hp2 others(10): Show HG00673.hp1 HG01099.hp1 HG01099.hp2 HG02109.hp1 HG02738.hp2 HG03710.hp1 HG04184.hp2 NA18950.hp2 NA18951.hp1 NA18963.hp1 NA19007.hp1 NA19083.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0128 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0033 a0001c0001t0002g0129 a0002c0002t0001g0321	13	362	0.0359	-136	c.981 others(17): Show c.981+1407_981+1542del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686544	GGGGCCCC others(129): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01106.hp1 HG01192.hp2 HG00609.hp2 HG01106.hp1 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0168 a0002c0002t0002g0324 a0002c0002t0002g0020 a0002c0002t0002g0168 a0002c0002t0002g0324	3	362	0.0083	-136	c.981 others(17): Show c.981+1332_981+1467del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686741	TGGGCCCC others(129): Show TGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0025	1	362	0.0028	-136	c.981 others(17): Show c.981+1135_981+1270del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686877	GGGGCCCC others(129): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18995.hp2 NA19012.hp1 HG01346.hp1 NA18995.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0084 a0002c0002t0001g0004 a0001c0001t0001g0084 a0002c0002t0001g0004	3	362	0.0083	-136	c.981 others(16): Show c.981+999_981+1134del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687379	GAGAACAG others(129): Show GAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	362	0.0028	-136	c.981 others(15): Show c.981+497_981+632del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PCDH15_chr10_53797771_54806231	54784602	GCTTAAGG others(129): Show GCTTAAGGGAGTCCAACATCTGGAAGCAAACAGATGATATCTAACATCAT GAAATCATGCAAAAGTAGAATTACTGATGGAGAAAAATGTAATCCAAGGA AAATTGTGGTGCTATGATCAGAAGGCAAAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0076 a0005c0005t0004g0076	1	102	0.0098	-136	c.-29 others(19): Show c.-29+16187_-29+16322del	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54784602	GCTTAAGG others(129): Show GCTTAAGGGAGTCCAACATCTGGAAGCAAACAGATGATATCTAACATCAT GAAATCATGCAAAAGTAGAATTACTGATGGAGAAAAATGTAATCCAAGGA AAATTGTGGTGCTATGATCAGAAGGCAAAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0070 a0005c0009t0002g0070	1	94	0.0106	-136	c.-29 others(19): Show c.-29+16187_-29+16322del	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PDE9A_chr21_42648621_42780509	42714655	ATTAGCTC others(129): Show ATTAGCTCTCCCAGTCTTTGTTGATATGGTTGGGGTTAGCTCTACCAGTC TTTGTTCATATGGTTGGGGTTAGCTCTACCAGTCTTTGTTGATATGGTTG AGGTTAGCTCTACCAGTCTTTGTTGATATGGTTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(106): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19055.hp1 NA19063.hp1 NA19068.hp1 NA19074.hp2 NA19085.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0003c0007 a0004c0012 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0003c0007t0001 a0004c0012t0004 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0047 others(106): Show a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0064 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0120 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0004g0238 a0001c0001t0007g0093 a0001c0001t0008g0297 a0001c0002t0001g0004 a0001c0002t0001g0045 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0078 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0001g0175 a0001c0002t0001g0218 a0001c0002t0001g0229 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0320 a0001c0002t0002g0031 a0001c0002t0002g0050 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0128 a0001c0002t0002g0296 a0001c0002t0003g0016 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0079 a0001c0003t0001g0083 a0001c0003t0001g0091 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0191 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0223 a0001c0003t0002g0070 a0001c0003t0002g0086 a0001c0003t0002g0130 a0001c0003t0003g0017 a0001c0003t0003g0018 a0001c0004t0001g0082 a0001c0004t0001g0140 a0001c0004t0001g0159 a0001c0006t0001g0153 a0001c0006t0001g0154 a0003c0007t0001g0172 a0004c0012t0004g0259 a0005c0011t0001g0094	109	324	0.3364	-136	c.262 others(19): Show c.262+15789_262+15924del	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDHA1_chrX_19338927_19366718	19356682	GAATGTAG others(129): Show GAATGTAGTTGTAGAATGTGTGACTTTCCCAAACAGATAACCTTCACAAT TCTGAGTTAGGTGTTATTGTTTTGCCCATTTTGCAGACAAGGAAACTGAG CCATAGAGCAGTTAAAGGTACACAGCTACTCTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(46): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0005t0004	a0001c0002t0001g0138 a0001c0002t0002g0006 a0001c0002t0002g0010 others(33): Show a0001c0002t0001g0138 a0001c0002t0002g0006 a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0004g0011 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0061 a0001c0002t0004g0064 a0001c0002t0004g0065 a0001c0002t0004g0066 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0002t0004g0071 a0001c0002t0006g0045 a0001c0002t0006g0049 a0001c0002t0006g0050 a0001c0002t0006g0051 a0001c0002t0007g0009 a0001c0002t0011g0053 a0001c0002t0018g0072 a0001c0002t0019g0139 a0001c0005t0004g0073	49	247	0.1984	-136	c.831 others(15): Show c.831+926_832-834del	PDHA1	ENSG00000131828.14	transcript	ENST00000422285.7	protein_coding	8/10			chrX	TogoVar
PDYN_chr20_1973759_1999058	1995306	TTTCCTAG others(129): Show TTTCCTAGAGACACACAGCAAGTAAGTCATCCAGCTAGAACCTAAAGTCA GGTCCATCTATCCTCCAAGTTCCTAGAGACACACAGCAAGTAAGTCATCC AGCTAGAACCTAAAGTCAGGTCCATCTACCCTCCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp2 HG02145.hp1 others(8): Show HG02129.hp1 HG02129.hp2 HG02145.hp1 HG03098.hp1 HG04199.hp2 NA18940.hp2 NA18961.hp1 NA18974.hp1 NA18992.hp2 NA18997.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0150 a0001c0001t0002g0074 a0001c0001t0003g0044 a0001c0001t0004g0081	11	390	0.0282	-136	c.-16 others(11): Show c.-1611_-1476del	PDYN	ENSG00000101327.9	transcript	ENST00000217305.3	protein_coding		1249		chr20	TogoVar
PEX5_chr12_7184686_7216459	7196518	GTAATAAT others(129): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATA TAATGTAATAATTATATATGTCACATAATGTAATAATTATATATGTCACA TATAATGTAATAATTATATATGTCACATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA18999.hp1 HG04199.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0096 a0001c0001t0001g0114	2	428	0.0047	-136	c.449 others(17): Show c.449-2488_449-2353del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIP4K2A_chr10_22529854_22719578	22664046	TACATATG others(129): Show TACATATGTATATATACATATATATATATACGTATATATATATACATATA TATATATACATATATATATACATATATATATATACATATATATATACATA TATATACACATATATATATATACATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	206	0.0049	-136	c.144 others(19): Show c.144+50001_144+50136del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PLCD3_chr17_45103959_45137515	45125116	CAGGAGTT others(129): Show CAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTTTCTGTTT AAAATATAAAACATCAGCCGGGCATGGTGGCTCACACCTGCAATCCCAGC ACTTTGGGAGGCTGAGGCATGTGGATCATTTGAGGCA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0069 a0001c0004t0028g0069	1	436	0.0023	-136	c.164 others(17): Show c.164-3880_164-3745del	PLCD3	ENSG00000161714.12	transcript	ENST00000619929.5	protein_coding	1/14			chr17	TogoVar
PLEKHA4_chr19_48832097_48873617	48856312	GGTGGCTC others(129): Show GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGA TCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCA TCTCTACTAAAAATACAAAAAAGTTGGGCCAGGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01074.hp1 others(10): Show HG00140.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01515.hp2 HG01517.hp1 HG02451.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0268 a0002c0002t0004g0270 others(7): Show a0002c0002t0004g0001 a0002c0002t0004g0268 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0004g0277	13	300	0.0433	-136	c.104 others(18): Show c.1047+974_1047+1109del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding	9/19			chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48871724	TAATCCCA others(129): Show TAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCCCCTGACGTCGGG AGTTCCAGACCAGCCTGACCAACATGGAGAAACTACGTCTCTACTAAACA AATACAAAATTAGCCGGGCGTGGCGGCACATGCCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(137): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0008 a0011 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0002c0002 a0002c0010 others(12): Show a0001c0001 a0002c0002 a0002c0010 a0002c0022 a0002c0023 a0002c0024 a0003c0003 a0004c0004 a0008c0011 a0011c0012 a0014c0020 a0015c0021 a0016c0019 a0017c0018 a0018c0015	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(27): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0019 a0002c0010t0002 a0002c0010t0016 a0002c0022t0010 a0002c0023t0003 a0002c0024t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0018 a0003c0003t0020 a0004c0004t0002 a0004c0004t0003 a0008c0011t0002 a0011c0012t0005 a0014c0020t0010 a0015c0021t0004 a0016c0019t0003 a0017c0018t0002 a0018c0015t0002	a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0022 others(129): Show a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0022 a0001c0001t0002g0023 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0003g0238 a0002c0002t0003g0240 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0004g0001 a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0002t0004g0275 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0012g0017 a0002c0002t0013g0030 a0002c0002t0014g0098 a0002c0002t0015g0099 a0002c0002t0017g0232 a0002c0002t0019g0239 a0002c0010t0002g0050 a0002c0010t0016g0103 a0002c0022t0010g0051 a0002c0023t0003g0242 a0002c0024t0002g0028 a0003c0003t0005g0040 a0003c0003t0005g0041 a0003c0003t0005g0042 a0003c0003t0005g0053 a0003c0003t0005g0054 a0003c0003t0005g0055 a0003c0003t0005g0056 a0003c0003t0005g0066 a0003c0003t0005g0089 a0003c0003t0006g0233 a0003c0003t0006g0237 a0003c0003t0006g0241 a0003c0003t0006g0250 a0003c0003t0006g0253 a0003c0003t0006g0254 a0003c0003t0006g0255 a0003c0003t0006g0258 a0003c0003t0008g0002 a0003c0003t0008g0100 a0003c0003t0008g0101 a0003c0003t0008g0102 a0003c0003t0018g0231 a0003c0003t0020g0259 a0004c0004t0002g0045 a0004c0004t0002g0048 a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0090 a0004c0004t0002g0096 a0004c0004t0003g0246 a0004c0004t0003g0247 a0004c0004t0003g0248 a0004c0004t0003g0256 a0008c0011t0002g0083 a0008c0011t0002g0084 a0008c0011t0002g0087 a0011c0012t0005g0019 a0011c0012t0005g0020 a0014c0020t0010g0092 a0015c0021t0004g0278 a0016c0019t0003g0257 a0017c0018t0002g0031 a0018c0015t0002g0018	140	300	0.4667	-136	c.-37 others(11): Show c.-3784_-3649del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		3108		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137514489	CGGGTCAC others(129): Show CGGGTCACCTGACTGTTGAGGTGCCCGGGCCCTGTGGCTGGGCTGCGGGC GGGTCACCCGGATGTTGAGGTGCCCGGGCCCTGTGGCCGGGCTGTGGGCG GGTCACCCGGCTGTTGAGGTGCCCGGGCCCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp2 HG02723.hp1 HG01123.hp1 HG02109.hp2 HG02723.hp1	a0016 a0023 a0016 a0023	a0016c0017 a0023c0052 a0016c0017 a0023c0052	a0016c0017t0004 a0023c0052t0004 a0016c0017t0004 a0023c0052t0004	a0016c0017t0004g0053 a0016c0017t0004g0135 a0023c0052t0004g0096 a0016c0017t0004g0053 a0016c0017t0004g0135 a0023c0052t0004g0096	3	188	0.0160	-136	c.122 others(17): Show c.1225+754_1225+889del	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
POFUT1_chr20_32202880_32243658	32225597	TCCCATGT others(129): Show TCCCATGTAGCCTCCTAGGTAGCTGAGACCACAGGCACACACCACAACAC TTGGCTAATTTTTTGATATTTTTGGATAGATGGGGTGTTGCCATGTTGCC CCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTG	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	322	0.0031	-136	c.543 others(17): Show c.543-2661_543-2526del	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R15A_chr19_48867421_48881058	48871724	TAATCCCA others(129): Show TAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCCCCTGACGTCGGG AGTTCCAGACCAGCCTGACCAACATGGAGAAACTACGTCTCTACTAAACA AATACAAAATTAGCCGGGCGTGGCGGCACATGCCTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18987.hp2 NA18988.hp2 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 others(20): Show a0001 a0002 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0024 a0025 a0026 a0027 a0030 a0031 a0042	a0001c0001 a0002c0002 a0005c0006 others(22): Show a0001c0001 a0002c0002 a0005c0006 a0005c0024 a0006c0005 a0007c0010 a0007c0015 a0009c0008 a0010c0009 a0011c0011 a0013c0013 a0015c0016 a0016c0019 a0017c0018 a0018c0017 a0019c0020 a0020c0021 a0022c0023 a0024c0027 a0025c0026 a0026c0028 a0027c0029 a0030c0047 a0031c0039 a0042c0049	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0005c0006t0002 a0005c0024t0002 a0006c0005t0002 a0007c0010t0002 a0007c0015t0002 a0009c0008t0002 a0010c0009t0002 a0011c0011t0002 a0013c0013t0002 a0015c0016t0002 a0016c0019t0002 a0017c0018t0002 a0018c0017t0002 a0019c0020t0001 a0020c0021t0002 a0022c0023t0002 a0024c0027t0002 a0025c0026t0002 a0026c0028t0002 a0027c0029t0002 a0030c0047t0002 a0031c0039t0002 a0042c0049t0002	a0001c0001t0001g0008 a0001c0001t0002g0037 a0001c0001t0004g0001 others(37): Show a0001c0001t0001g0008 a0001c0001t0002g0037 a0001c0001t0004g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0015 a0002c0002t0002g0041 a0002c0002t0002g0043 a0005c0006t0002g0003 a0005c0006t0002g0013 a0005c0006t0002g0023 a0005c0024t0002g0003 a0005c0024t0002g0036 a0006c0005t0002g0003 a0006c0005t0002g0004 a0006c0005t0002g0018 a0007c0010t0002g0009 a0007c0010t0002g0035 a0007c0010t0002g0038 a0007c0015t0002g0011 a0009c0008t0002g0010 a0009c0008t0002g0042 a0010c0009t0002g0005 a0011c0011t0002g0002 a0013c0013t0002g0009 a0015c0016t0002g0016 a0016c0019t0002g0002 a0017c0018t0002g0024 a0018c0017t0002g0002 a0019c0020t0001g0020 a0020c0021t0002g0003 a0022c0023t0002g0022 a0024c0027t0002g0002 a0025c0026t0002g0016 a0026c0028t0002g0040 a0027c0029t0002g0044 a0030c0047t0002g0039 a0031c0039t0002g0005 a0042c0049t0002g0034	154	406	0.3793	-136	c.-93 others(9): Show c.-936_-801del	PPP1R15A	ENSG00000087074.9	transcript	ENST00000200453.6	protein_coding		696		chr19	TogoVar
PROZ_chr13_113153648_113177386	113154055	GGGGGGCG others(129): Show GGGGGGCGGGGCGTGGGGGAGGCGGGGCGTGGGGGCGGGGCGTGGGGGGC GGGGCGTGGGGGAGGGCAGGGGCACGTGACGCAGGGCGTGGGGGAGGCGG GGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0087 a0003c0005t0001g0087	1	378	0.0027	-136	c.-46 others(11): Show c.-4605_-4470del	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4592		chr13	TogoVar
PTGDS_chr9_136972504_136986742	136978550	TGGGCGTG others(129): Show TGGGCGTGGTCAGCTCCTGGGGCGGGGACGTGAGGGGCGGGGTCAGCTCC TAGGGGGGCATGGGGCGTGAGGGGCGCGGTCAGTTCCCTGGTTGTGGACA TGAAGGGCGGGGCCAGCTCTTGGGGCGGGGTCGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	382	0.0026	-136	c.115 others(15): Show c.115-415_115-280del	PTGDS	ENSG00000107317.13	transcript	ENST00000371625.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPRM_chr18_7562316_8411856	7691946	GGGAGGAT others(129): Show GGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGAT CCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGA GGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02723.hp2 others(9): Show HG01891.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03130.hp1 HG03471.hp1 HG03471.hp2 NA18959.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0014 a0001c0021 a0001c0022	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0003 a0001c0012t0002 a0001c0014t0001 a0001c0021t0001 a0001c0022t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0002t0001g0052 others(9): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0002t0001g0052 a0001c0003t0002g0003 a0001c0004t0001g0016 a0001c0004t0001g0063 a0001c0004t0002g0021 a0001c0005t0003g0074 a0001c0012t0002g0035 a0001c0014t0001g0014 a0001c0021t0001g0062 a0001c0022t0001g0017	12	80	0.1500	-136	c.74- others(17): Show c.74-81866_74-81731del	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB40C_chr16_585066_634268	612315	AGGGACAG others(129): Show AGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTG GCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGA GCAAGGGACAGCCGCCTTCGCCTGTAGAATCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0040 a0001c0001t0008g0040	1	350	0.0029	-136	c.143 others(17): Show c.143-4892_143-4757del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RABGAP1_chr9_122936020_123109866	122956297	CATGTTAA others(129): Show CATGTTAATATTTTAAATTTAAGTATCAATAATGCTAGGAAAACCTTATT GTGCCCTCACAATAACTAAGTGCTTTCCATTTCATTTACATGTACAACTT TAAAAATTAGACGGTAGGCCGAGACCGGCGGATCACG	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0019	1	258	0.0039	-136	c.-49 others(15): Show c.-49-712_-49-577del	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RBFOX1_chr16_6014024_7718340	6779741	TTTTATAT others(129): Show TTTTATATATACTTTTATATATTTATATATATATTTATATATATTTTTAT ATATACTTTTATATATTTATATATATATTTATATATATTTTTATATATTT ATATATATATTTATATATATTTATATATTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0039 a0001c0001t0014g0046 a0001c0001t0007g0039 a0001c0001t0014g0046	2	68	0.0294	-136	c.-16 others(21): Show c.-16+125102_-16+125237del	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79442224	AGAGAGAG others(129): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGGGAGAGAGGGAGGGAGAGAGAGGGAGAGAGAGGGAGTGAGGG AGGGAGAGAGAGGGAGGGAGGGAGGGAGGAAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG03486.hp2 HG02615.hp1 HG02818.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0028 a0001c0001t0001 a0001c0001t0002 a0001c0001t0028	a0001c0001t0001g0071 a0001c0001t0002g0131 a0001c0001t0028g0136 a0001c0001t0001g0071 a0001c0001t0002g0131 a0001c0001t0028g0136	3	154	0.0195	-136	c.-17 others(21): Show c.-175+40094_-175+40229del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RHBDL2_chr1_38880807_38946830	38884085	GAGACCAG others(129): Show GAGACCAGCCTGGCCAACATGGTGAAACACCGTCTCTACTAAAAAATACA AAAATTAGCCGAGTGCAGTGGTTCACACCTGTAATCCCAGCACTTTGGGA GGCCGAGGTGGGCGGATCACCTAAGGTCAGGAGTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG02572.hp2 HG02647.hp1 others(5): Show HG01069.hp2 HG02572.hp2 HG02647.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp2 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0102 others(5): Show a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0268	8	364	0.0220	-136	c.22 others(11): Show c.2283_*2418del	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		1721		chr1	TogoVar
RPH3AL_chr17_207389_357807	242249	TTACCTTC others(129): Show TTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGAC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01361.hp2 HG01258.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0096 a0001c0001t0013g0107 a0001c0001t0004g0096 a0001c0001t0013g0107	2	133	0.0150	-136	c.613 others(17): Show c.613+4726_613+4861del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288649	TCTCTCTC others(129): Show TCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCAGACCTC GCACCCTCTCTCTCCACCGTCAGACCTCGCACCCTCTCTCTCCACCGTCA GACCTCGCACCCTCTCTCCACCGTCAGACCTCGCACC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03831.hp2 HG02071.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0091 a0001c0002t0007g0112 a0001c0001t0001g0091 a0001c0002t0007g0112	2	133	0.0150	-136	c.352 others(17): Show c.352-6931_352-6796del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191729	TATATATA others(129): Show TATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0196 a0001c0001t0026g0196	1	272	0.0037	-136	c.-39 others(11): Show c.-3966_-3831del	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3531		chrX	TogoVar
RTN1_chr14_59590983_59875776	59749520	TATTTATA others(129): Show TATTTATATATATCTATCTATATATATTTATATAGATATCTATATATAGA TATATATATATAGATATTTATATATATATCTATCTATATATATTTATATA GATATCTATATATAGATATCTATATATATTTATATAG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0107 a0005c0006t0001g0107	1	172	0.0058	-136	c.242 others(17): Show c.242-3175_242-3040del	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCN8A_chr12_51586233_51817864	51772713	GCTCACAC others(129): Show GCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCAC GAAGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTC TACTAAAAATACAAAAAAAATTAACCGGGCATGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03453.hp2 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0024 a0001c0012t0025 a0001c0010t0024 a0001c0012t0025	a0001c0010t0024g0112 a0001c0012t0025g0113 a0001c0010t0024g0112 a0001c0012t0025g0113	2	202	0.0099	-136	c.364 others(19): Show c.3646-1424_3646-1289del	SCN8A	ENSG00000196876.19	transcript	ENST00000354534.11	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
SDK1_chr7_3296252_4274000	3482910	TAAACGTT others(129): Show TAAACGTTAGCTATGATGATGCTGGTGACAACAATGATGATTTCAAGTCT TTTTAATTCTCTCCTATTAATTGATTTCTCTTGCTTTGTTAAAATCACAC CAGTTTAATTAACACTTGTCATATTGTAAACTTTTTA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	116	0.0086	-136	c.299 others(21): Show c.299-136166_299-136031del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4216960	AGAGCACC others(129): Show AGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACC CGGAGCACCACACCACCCGGAGCACCAGGCCACCCGGAGCACCACACCAC CCGGAGCACCAGGCCACCCGGAGCACCACACCACCCG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0016 a0032c0075t0008g0016	1	116	0.0086	-136	c.554 others(19): Show c.5540-3072_5540-2937del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SIGIRR_chr11_400716_419999	401736	CCCGACCC others(129): Show CCCGACCCCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCG ACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0225 a0003c0015t0001g0225	1	242	0.0041	-136	c.40 others(11): Show c.4024_*4159del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3979		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1072229	GAGCCCCC others(129): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACTGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0060 a0002c0024t0002g0060	1	118	0.0085	-136	c.224 others(19): Show c.2241+1268_2241+1403del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC29A4_chr7_5277943_5311912	5288210	AGGCAGAG others(129): Show AGGCAGAGGAGGCTCTGTCTTAACATGGGCTTTTGTGCTCACTGGGTGGG TGAAGGGACCATGGCTCATGCGCTGACCCGTACAGCTTCTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCAC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0162 a0001c0001t0013g0162	1	408	0.0025	-136	c.169 others(15): Show c.169+226_169+361del	SLC29A4	ENSG00000164638.11	transcript	ENST00000396872.8	protein_coding	2/10			chr7	TogoVar
SLC38A4_chr12_46759761_46830997	46825095	ACTGGAGG others(129): Show ACTGGAGGAAACCAGGTGAAAGGTTTAGGTGGCCTCTCTGTGCAACTGGA TGCGAACCTATAATTACTTTAATATACGAAGTTTAAATGTCAGCTTCCTG GGTTTAATATTGTACTAAAGTGTGTCAGATGTAACCC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01515.hp1 others(17): Show HG00408.hp2 HG00673.hp1 HG01515.hp1 HG01517.hp2 HG02080.hp1 HG02129.hp1 HG03491.hp1 HG03688.hp2 NA18945.hp1 NA18962.hp2 NA18969.hp2 NA18974.hp1 NA18978.hp2 NA18989.hp2 NA19009.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19085.hp2 NA20752.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0001 a0003c0003 a0013c0011 a0001c0001 a0003c0003 a0013c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 a0013c0011t0002	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 others(15): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0002g0258 a0001c0001t0005g0027 a0001c0001t0005g0259 a0003c0003t0002g0028 a0003c0003t0002g0260 a0003c0003t0002g0263 a0003c0003t0002g0266 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0283 a0003c0003t0002g0284 a0003c0003t0002g0285 a0003c0003t0002g0286 a0013c0011t0002g0264	20	384	0.0521	-136	c.-30 others(17): Show c.-305+672_-305+807del	SLC38A4	ENSG00000139209.16	transcript	ENST00000266579.9	protein_coding	1/16			chr12	TogoVar
SLC39A14_chr8_22362278_22427736	22396385	TAGAGAGA others(129): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAG AGAGAGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02523.hp1 HG02523.hp2 others(4): Show HG00673.hp2 HG02523.hp1 HG02523.hp2 HG03704.hp2 HG03834.hp1 NA18954.hp2 NA18977.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0004 a0003c0001t0001g0078 a0003c0001t0001g0097 others(4): Show a0003c0001t0001g0004 a0003c0001t0001g0078 a0003c0001t0001g0097 a0003c0001t0001g0110 a0003c0001t0001g0115 a0003c0001t0001g0116 a0003c0001t0001g0124	7	324	0.0216	-136	c.-15 others(17): Show c.-15-8298_-15-8163del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203228	GGAGAGAG others(129): Show GGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGGGAGA GGGAGACCATGGAGAGAGAGAGAGAGAGAGAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02922.hp1 others(1): Show HG02280.hp2 HG02615.hp1 HG02922.hp1 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0011 a0001c0009t0010 a0001c0009t0011	a0001c0009t0010g0063 a0001c0009t0010g0064 a0001c0009t0010g0084 others(1): Show a0001c0009t0010g0063 a0001c0009t0010g0064 a0001c0009t0010g0084 a0001c0009t0011g0103	4	188	0.0213	-136	c.82 others(11): Show c.8208_*8343del	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3945		chr8	TogoVar
SNX25_chr4_185204598_185368966	185222194	TCCATATA others(129): Show TCCATATAACCCTCCTTCATGGCAGGTATTCAGAGCCATATACCCCTCCT TCGCGGTAGGTATACAGCACCATATACCCCTCCTTCGCGGTAGGTATACA GCACCATATACTCCTCGTTCACTGTAGGTATACAGCA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02738.hp2 NA18942.hp2 others(5): Show HG00621.hp2 HG02738.hp2 NA18942.hp2 NA18964.hp2 NA18973.hp1 NA18994.hp1 NA19070.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011	8	276	0.0290	-136	c.429 others(19): Show c.429+11972_429+12107del	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK2_chr7_105111374_105393921	105393192	CACCATGT others(129): Show CACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTGCC TGCCTCAGCCTCCCAAAGTGTTGGGATTGCAGGCTTGAGCCACCGCGTCC AGCCTAATTTTTGTATTTTTAGTGGAGATGGGGTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02647.hp1 HG02809.hp2 others(2): Show HG01106.hp1 HG02647.hp1 HG02809.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0282	5	282	0.0177	-136	c.-45 others(11): Show c.-4522_-4387del	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding		4272		chr7	TogoVar
SRRD_chr22_26478877_26499658	26495548	ATGTGTAT others(129): Show ATGTGTATATATATACACATATATATATGTGTGTGTGTGTATACATATAT ACATATATATGTGTGTATATACATATATGTGTATATACATGTGTATATAT ACATGTATATGCATGTGTGTATATATATACATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0002c0002t0003 a0003c0003t0004 a0004c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0050 a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0004g0009 a0001c0001t0005g0019 a0001c0001t0005g0043 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0007g0001 a0001c0001t0007g0015 a0001c0001t0007g0041 a0001c0001t0013g0011 a0001c0001t0024g0083 a0001c0001t0025g0001 a0001c0001t0028g0001 a0002c0002t0003g0004 a0003c0003t0004g0032 a0004c0004t0002g0001	136	448	0.3036	-136	c.38 others(11): Show c.3877_*4012del	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding		891		chr22	TogoVar
STARD13_chr13_33098137_33290755	33177850	GAAGGAAG others(129): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG01884.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0005 a0001c0011t0001 a0001c0005t0005 a0001c0011t0001	a0001c0005t0005g0295 a0001c0011t0001g0153 a0001c0005t0005g0295 a0001c0011t0001g0153	2	302	0.0066	-136	c.170 others(19): Show c.170-10364_170-10229del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
STK17B_chr2_196128583_196176578	196163793	TTTGGGAG others(129): Show TTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGAAGTTCAAAACCA GTCCTGGCAACATAGCGAGATCCCATCTCTATGAAAAAATTTAAAAATTA ACTGGGTGTAGTGGCTCGCACCTGTAGTCCCAGCTGC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	360	0.0028	-136	c.-44 others(15): Show c.-44-502_-44-367del	STK17B	ENSG00000081320.11	transcript	ENST00000263955.9	protein_coding	1/7			chr2	TogoVar
STON1_chr2_48525154_48603513	48564478	TCTTTCTT others(129): Show TCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCT TCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	376	0.0027	-136	c.-47 others(19): Show c.-47-16105_-47-15970del	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar

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