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
SHISA9_chr16_12896598_13245416	13004954	A A	AAAAGAAA others(13): Show AAAAGAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01255.hp1 HG01496.hp2 others(51): Show HG00558.hp1 HG01255.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18967.hp2 NA18970.hp2 NA18983.hp2 NA19043.hp2 NA19056.hp2 NA19063.hp1 NA19065.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0076 a0001c0001t0083 a0001c0001t0087 a0001c0002t0006 a0001c0002t0062 a0004c0006t0019	a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0092 others(51): Show a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0192 a0001c0001t0002g0115 a0001c0001t0002g0163 a0001c0001t0003g0029 a0001c0001t0003g0081 a0001c0001t0003g0099 a0001c0001t0004g0080 a0001c0001t0005g0035 a0001c0001t0005g0049 a0001c0001t0006g0079 a0001c0001t0008g0050 a0001c0001t0008g0075 a0001c0001t0009g0064 a0001c0001t0009g0214 a0001c0001t0010g0133 a0001c0001t0010g0188 a0001c0001t0011g0123 a0001c0001t0012g0078 a0001c0001t0012g0107 a0001c0001t0012g0150 a0001c0001t0013g0122 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0001t0014g0077 a0001c0001t0015g0190 a0001c0001t0019g0023 a0001c0001t0023g0119 a0001c0001t0024g0110 a0001c0001t0030g0024 a0001c0001t0031g0082 a0001c0001t0037g0157 a0001c0001t0046g0039 a0001c0001t0048g0057 a0001c0001t0051g0028 a0001c0001t0053g0055 a0001c0001t0055g0118 a0001c0001t0057g0093 a0001c0001t0058g0040 a0001c0001t0061g0073 a0001c0001t0065g0056 a0001c0001t0066g0076 a0001c0001t0067g0015 a0001c0001t0068g0044 a0001c0001t0076g0108 a0001c0001t0083g0136 a0001c0001t0087g0206 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0062g0182 a0004c0006t0019g0022	54	214	0.2523	20	c.691 others(39): Show c.691+88142_691+88143insGAAAAAAAGAAAGAAAGAAA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015853	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02293.hp2 HG02071.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0007 a0001c0001t0010	a0001c0001t0007g0189 a0001c0001t0010g0130 a0001c0001t0007g0189 a0001c0001t0010g0130	2	214	0.0094	20	c.691 others(39): Show c.691+99075_691+99094dupCTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019956	T T	TTTCTTTC others(13): Show TTTCTTTCCCTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0126 a0001c0001t0011g0126	1	214	0.0047	20	c.691 others(41): Show c.691+103144_691+103145insTTTCCCTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019968	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp2 HG01346.hp1 others(4): Show HG00639.hp2 HG00673.hp2 HG01346.hp1 HG02083.hp2 HG02258.hp1 HG02809.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0044 a0001c0001t0054 a0001c0002t0009	a0001c0001t0001g0070 a0001c0001t0002g0207 a0001c0001t0003g0148 others(4): Show a0001c0001t0001g0070 a0001c0001t0002g0207 a0001c0001t0003g0148 a0001c0001t0004g0048 a0001c0001t0044g0033 a0001c0001t0054g0020 a0001c0002t0009g0181	7	214	0.0327	20	c.691 others(41): Show c.691+103178_691+103197dupTTCCTTCCTTCCTTCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019968	T T	TTTCCTTC others(13): Show TTTCCTTCGTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02738.hp2 HG02976.hp1 others(4): Show HG01167.hp1 HG02738.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp2 HG03492.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0014 a0001c0001t0047 a0001c0001t0079 others(4): Show a0001c0001t0014 a0001c0001t0047 a0001c0001t0079 a0001c0001t0084 a0001c0001t0094 a0001c0002t0006 a0001c0003t0008	a0001c0001t0014g0052 a0001c0001t0047g0174 a0001c0001t0079g0164 others(4): Show a0001c0001t0014g0052 a0001c0001t0047g0174 a0001c0001t0079g0164 a0001c0001t0084g0151 a0001c0001t0094g0101 a0001c0002t0006g0116 a0001c0003t0008g0002	7	214	0.0327	20	c.691 others(41): Show c.691+103160_691+103161insGTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139384	C C	CCCTTCCT others(13): Show CCCTTCCTTCTTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01099.hp1 others(15): Show HG00280.hp2 HG01070.hp2 HG01099.hp1 HG01258.hp1 HG01891.hp1 HG02135.hp2 HG02896.hp2 HG03669.hp1 HG06807.hp1 NA18941.hp1 NA18944.hp2 NA18952.hp2 NA18970.hp1 NA18971.hp1 NA18983.hp2 NA19000.hp2 NA19010.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0048 a0001c0001t0058 a0001c0001t0067	a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0197 others(15): Show a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0002g0003 a0001c0001t0002g0152 a0001c0001t0002g0169 a0001c0001t0002g0177 a0001c0001t0003g0204 a0001c0001t0007g0134 a0001c0001t0010g0132 a0001c0001t0010g0133 a0001c0001t0017g0021 a0001c0001t0020g0187 a0001c0001t0022g0162 a0001c0001t0048g0057 a0001c0001t0058g0040 a0001c0001t0067g0015	18	214	0.0841	20	c.692 others(39): Show c.692-64000_692-63981dupTTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13139394	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG02647.hp2 others(7): Show HG00438.hp2 HG00597.hp2 HG02647.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 NA18955.hp1 NA19000.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0090 a0001c0001t0091	a0001c0001t0001g0058 a0001c0001t0002g0195 a0001c0001t0003g0034 others(7): Show a0001c0001t0001g0058 a0001c0001t0002g0195 a0001c0001t0003g0034 a0001c0001t0004g0086 a0001c0001t0007g0135 a0001c0001t0009g0064 a0001c0001t0013g0016 a0001c0001t0013g0122 a0001c0001t0090g0171 a0001c0001t0091g0066	10	214	0.0467	20	c.692 others(39): Show c.692-63980_692-63961dupCTTCCTTCCTTCCTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13140138	T T	TCCCTCCC others(13): Show TCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0076 a0001c0001t0066g0076	1	214	0.0047	20	c.692 others(39): Show c.692-63236_692-63217dupCCCCTCCCCTCCCCTCCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13142989	C C	CTTTTATT others(13): Show CTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02109.hp1 others(10): Show HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02129.hp1 HG02280.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0046 a0001c0001t0061 a0001c0001t0097 a0001c0002t0013 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0070 a0001c0001t0002g0045 a0001c0001t0002g0115 others(10): Show a0001c0001t0001g0070 a0001c0001t0002g0045 a0001c0001t0002g0115 a0001c0001t0003g0081 a0001c0001t0021g0061 a0001c0001t0030g0013 a0001c0001t0031g0082 a0001c0001t0046g0039 a0001c0001t0061g0073 a0001c0001t0097g0105 a0001c0002t0013g0124 a0001c0004t0001g0071 a0001c0004t0009g0072	13	214	0.0608	20	c.692 others(39): Show c.692-60389_692-60370dupTTTTATTTTATTTTATTTTA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13197104	T T	TATATATA others(13): Show TATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG02145.hp1 others(3): Show HG01074.hp1 HG02055.hp1 HG02145.hp1 HG02630.hp2 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0063 a0001c0001t0076 a0001c0001t0088 a0001c0002t0060	a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0063g0138 others(3): Show a0001c0001t0004g0080 a0001c0001t0006g0079 a0001c0001t0063g0138 a0001c0001t0076g0108 a0001c0001t0088g0018 a0001c0002t0060g0183	6	214	0.0280	20	c.692 others(37): Show c.692-6289_692-6288insTATATACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13200409	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02109.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0093 a0001c0002t0060 a0001c0001t0093 a0001c0002t0060	a0001c0001t0093g0102 a0001c0002t0060g0183 a0001c0001t0093g0102 a0001c0002t0060g0183	2	214	0.0094	20	c.692 others(37): Show c.692-2971_692-2952dupCACACACACACACACACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG03486.hp1 HG02723.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0010 a0001c0001t0010 a0001c0003t0010	a0001c0001t0010g0320 a0001c0003t0010g0141 a0001c0001t0010g0320 a0001c0003t0010g0141	2	380	0.0053	20	c.80 others(31): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19064.hp1 NA19067.hp1 others(1): Show HG02132.hp2 NA19064.hp1 NA19067.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0006 a0001c0002t0078 a0001c0001t0006 a0001c0002t0006 a0001c0002t0078	a0001c0001t0006g0076 a0001c0001t0006g0180 a0001c0002t0006g0066 others(1): Show a0001c0001t0006g0076 a0001c0001t0006g0180 a0001c0002t0006g0066 a0001c0002t0078g0171	4	380	0.0105	20	c.600 others(39): Show c.600-11412_600-11393dupTATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGGGTAT others(13): Show ATGGGTATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp2 HG01891.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0242 a0001c0001t0011g0300 a0001c0001t0011g0242 a0001c0001t0011g0300	2	380	0.0053	20	c.600 others(39): Show c.600-16844_600-16843insCACACACACACACATACCCA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02129.hp2 NA18945.hp1 others(2): Show HG01258.hp1 HG02129.hp2 NA18945.hp1 NA19063.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0069	a0001c0001t0002g0325 a0001c0001t0003g0119 a0001c0001t0005g0093 others(2): Show a0001c0001t0002g0325 a0001c0001t0003g0119 a0001c0001t0005g0093 a0001c0001t0005g0226 a0001c0001t0069g0291	5	380	0.0132	20	c.600 others(39): Show c.600-16863_600-16844dupCACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44277449	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03491.hp1 HG03516.hp2 others(4): Show HG02572.hp1 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG04199.hp1 NA19004.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0083 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0083 a0001c0002t0001 a0001c0002t0002 a0001c0002t0032 a0001c0002t0082	a0001c0001t0083g0264 a0001c0002t0001g0179 a0001c0002t0001g0350 others(4): Show a0001c0001t0083g0264 a0001c0002t0001g0179 a0001c0002t0001g0350 a0001c0002t0002g0151 a0001c0002t0002g0228 a0001c0002t0032g0246 a0001c0002t0082g0121	7	380	0.0184	20	c.599 others(37): Show c.599+7959_599+7978dupTGTTTTGTTTTGTTTTGTTT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01891.hp2 others(13): Show HG00408.hp2 HG00544.hp2 HG01891.hp2 HG02055.hp2 HG02080.hp2 HG02523.hp1 HG02572.hp2 HG03540.hp1 NA18612.hp2 NA18955.hp2 NA18979.hp1 NA18980.hp1 NA19030.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0020 a0001c0002t0087 a0001c0004t0022	a0001c0002t0001g0253 a0001c0002t0002g0185 a0001c0002t0003g0128 others(12): Show a0001c0002t0001g0253 a0001c0002t0002g0185 a0001c0002t0003g0128 a0001c0002t0003g0250 a0001c0002t0005g0095 a0001c0002t0006g0007 a0001c0002t0006g0183 a0001c0002t0008g0363 a0001c0002t0009g0327 a0001c0002t0009g0328 a0001c0002t0014g0048 a0001c0002t0020g0249 a0001c0002t0020g0335 a0001c0002t0087g0230 a0001c0004t0022g0307	16	380	0.0421	20	c.599 others(35): Show c.599+530_599+531insAAGGAAGGCAGGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTGCCT others(13): Show GCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01346.hp2 others(18): Show HG00738.hp1 HG01099.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp1 HG02602.hp1 HG02809.hp1 HG03041.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03927.hp2 NA18946.hp1 NA18973.hp1 NA19055.hp2 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0029 a0001c0002t0032 a0001c0002t0068 a0001c0002t0080 a0001c0002t0082 a0001c0003t0017	a0001c0001t0010g0337 a0001c0002t0001g0182 a0001c0002t0002g0074 others(17): Show a0001c0001t0010g0337 a0001c0002t0001g0182 a0001c0002t0002g0074 a0001c0002t0002g0106 a0001c0002t0003g0003 a0001c0002t0003g0323 a0001c0002t0006g0066 a0001c0002t0006g0209 a0001c0002t0006g0213 a0001c0002t0006g0324 a0001c0002t0007g0015 a0001c0002t0008g0092 a0001c0002t0008g0107 a0001c0002t0008g0317 a0001c0002t0029g0326 a0001c0002t0032g0246 a0001c0002t0068g0248 a0001c0002t0080g0341 a0001c0002t0082g0121 a0001c0003t0017g0034	21	380	0.0553	20	c.599 others(35): Show c.599+530_599+531insAAGGAAGGAAGGCAGGCAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44284897	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18941.hp2 NA18943.hp1 others(1): Show HG02083.hp1 NA18941.hp2 NA18943.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0191 a0001c0001t0004g0114 a0001c0001t0005g0168 others(1): Show a0001c0001t0002g0191 a0001c0001t0004g0114 a0001c0001t0005g0168 a0001c0001t0008g0170	4	380	0.0105	20	c.599 others(35): Show c.599+511_599+530dupAAGGAAGGAAGGAAGGAAGG	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44289466	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02040.hp2 HG02630.hp1 others(2): Show HG01993.hp2 HG02040.hp2 HG02630.hp1 HG02647.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0010 a0001c0002t0039	a0001c0001t0001g0358 a0001c0001t0004g0178 a0001c0002t0002g0283 others(2): Show a0001c0001t0001g0358 a0001c0001t0004g0178 a0001c0002t0002g0283 a0001c0002t0010g0308 a0001c0002t0039g0012	5	380	0.0132	20	c.282 others(37): Show c.282-3741_282-3722dupCACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	3/4			chr22	TogoVar
SHISAL2A_chr1_52628168_52662065	52645396	C C	CGTTTTGT others(13): Show CGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02970.hp1 NA20129.hp2 HG00639.hp2 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169	3	444	0.0068	20	c.322 others(37): Show c.322+2404_322+2423dupTGTTTTGTTTTGTTTTGTTT	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL2A_chr1_52628168_52662065	52654258	T T	TAGATAGA others(13): Show TAGATAGATAGATAGACAGAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0394 a0001c0001t0001g0394	1	444	0.0023	20	c.323 others(37): Show c.323-2529_323-2528insTAGATAGATAGACAGACAGA	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL2A_chr1_52628168_52662065	52654258	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02055.hp1 HG02572.hp1 others(4): Show HG00642.hp1 HG02055.hp1 HG02572.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0001g0267 a0001c0001t0001g0390 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0267 a0001c0001t0001g0390 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0076	7	444	0.0158	20	c.323 others(37): Show c.323-2529_323-2528insTAGATAGATAGATAGACAGA	SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL2B_chr5_64685503_64723190	64691374	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG02647.hp1 HG01891.hp2 HG02572.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0006g0070 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0006g0070	3	390	0.0077	20	c.191 others(35): Show c.191+569_191+588dupGTGTGTGTGTGTGTGTGTGT	SHISAL2B	ENSG00000145642.12	transcript	ENST00000389074.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHLD1_chr20_5745401_5869395	5775923	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp1 HG01109.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0079 a0001c0002t0002g0085 a0001c0001t0001g0079 a0001c0002t0002g0085	2	328	0.0061	20	c.178 others(37): Show c.178+2883_178+2902dupTTTTTTTTTTTTTTTTTTTT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5817432	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0304 a0001c0001t0004g0304	1	328	0.0031	20	c.178 others(39): Show c.178+44390_178+44391insCTCTCTCTCTCTCTGTGTGT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5852415	C C	CCCTCCCT others(13): Show CCCTCCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 NA20129.hp1 HG02572.hp1 HG02622.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0279 a0001c0002t0005g0010 a0001c0002t0005g0119 a0001c0001t0001g0279 a0001c0002t0005g0010 a0001c0002t0005g0119	3	328	0.0092	20	c.179 others(39): Show c.179-10606_179-10605insCCCTTCCTTCCTTCCTTCCT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5852415	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0287 a0002c0004t0002g0287	1	328	0.0031	20	c.179 others(39): Show c.179-10599_179-10580dupCTTCCTTCCTTCCTTCCTTC	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD3_chr5_65620027_65635928	65627131	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0051 a0005c0006t0002g0051	1	406	0.0025	20	c.-12 others(39): Show c.-121+2032_-121+2051dupAAAAAAAAAAAAAAAAAAAA	SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
SHOC1_chr9_111681171_111799937	111781724	G G	GTAAATAA others(13): Show GTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01074.hp2 others(17): Show HG00733.hp2 HG00738.hp2 HG01074.hp2 HG02071.hp1 HG02109.hp2 HG02602.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19080.hp1 NA19081.hp2 NA19240.hp2	a0002 a0015 a0022 a0002 a0015 a0022	a0002c0002 a0002c0007 a0002c0012 others(2): Show a0002c0002 a0002c0007 a0002c0012 a0015c0022 a0022c0019	a0002c0002t0002 a0002c0007t0004 a0002c0012t0006 others(2): Show a0002c0002t0002 a0002c0007t0004 a0002c0012t0006 a0015c0022t0002 a0022c0019t0002	a0002c0002t0002g0017 a0002c0002t0002g0229 a0002c0002t0002g0231 others(16): Show a0002c0002t0002g0017 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0007t0004g0221 a0002c0012t0006g0261 a0002c0012t0006g0262 a0002c0012t0006g0264 a0002c0012t0006g0265 a0015c0022t0002g0263 a0022c0019t0002g0246	20	296	0.0676	20	c.170 others(35): Show c.170-727_170-708dupTTTATTTATTTATTTATTTA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781746	A A	AAATTAAT others(13): Show AAATTAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA21309.hp2 HG02622.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0085 a0003c0003t0002g0090 a0003c0003t0002g0085 a0003c0003t0002g0090	2	296	0.0068	20	c.170 others(35): Show c.170-730_170-729insAATTAATTAATTAATTAATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATAAAT others(13): Show AAATAAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02300.hp1 HG02809.hp2 HG01169.hp1 HG02300.hp1 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097	3	296	0.0101	20	c.170 others(35): Show c.170-734_170-733insAATTAATTAATTAATTTATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOC1_chr9_111681171_111799937	111781750	A A	AAATTAAT others(13): Show AAATTAATTAATTAATTAATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	296	0.0034	20	c.170 others(35): Show c.170-734_170-733insAATTAATTAATTAATTAATT	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	3/27			chr9	TogoVar
SHOX2_chr3_158090905_158111420	158096918	A A	ATATATAT others(13): Show ATATATATATATATATATATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0156 a0001c0001t0094g0156	1	380	0.0026	20	c.11 others(31): Show c.1108_*1109insCATATATATATATATATATA	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	5/5	1108		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02647.hp1 HG03927.hp2 others(1): Show HG01981.hp2 HG02647.hp1 HG03927.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0055	a0001c0001t0005g0027 a0001c0001t0010g0013 a0001c0001t0015g0053 others(1): Show a0001c0001t0005g0027 a0001c0001t0010g0013 a0001c0001t0015g0053 a0001c0001t0055g0035	4	380	0.0105	20	c.-56 others(29): Show c.-567_-548dupCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHOX2_chr3_158090905_158111420	158106590	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0184 a0001c0001t0013g0184	1	380	0.0026	20	c.-56 others(29): Show c.-567_-566insCTCATCTCTCTCTCTCTCTC	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		171		chr3	TogoVar
SHPK_chr17_3603240_3641250	3635193	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01081.hp2 others(14): Show HG00423.hp2 HG00639.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG02083.hp2 HG02258.hp2 HG02523.hp2 HG03704.hp1 HG03834.hp1 HG04204.hp1 NA18948.hp2 NA18957.hp1 NA18961.hp2 NA19007.hp2 NA19065.hp1 NA19077.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026 a0002c0002t0002 a0002c0002t0020 a0002c0002t0021 a0003c0003t0004 a0012c0013t0001	a0001c0001t0001g0028 a0001c0001t0001g0265 a0001c0001t0001g0267 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0002g0273 a0001c0001t0003g0271 a0001c0001t0005g0269 a0001c0001t0007g0026 a0001c0001t0026g0274 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0020g0027 a0002c0002t0021g0268 a0003c0003t0004g0190 a0012c0013t0001g0266	17	382	0.0445	20	c.168 others(35): Show c.168+858_168+859insCTTCCTTTCTTCCTTCCTTC	SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding	1/6			chr17	TogoVar
SHPRH_chr6_145879807_145969358	145934473	T T	TAAATAAA others(13): Show TAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp1 HG01516.hp2 others(11): Show HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG02055.hp2 HG02572.hp2 HG02683.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03654.hp1 NA18942.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0003t0003 a0001c0003t0005	a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0137 others(10): Show a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0015g0276 a0001c0001t0016g0277 a0001c0003t0003g0260 a0001c0003t0005g0051	14	354	0.0396	20	c.299 others(37): Show c.2990+414_2990+433dupTATTTTATTTTATTTTATTT	SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	13/29			chr6	TogoVar
SHQ1_chr3_72744277_72853445	72751494	G G	GTACATAT others(13): Show GTACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0025 a0002c0002t0005g0025	1	222	0.0045	20	c.118 others(37): Show c.1182-659_1182-658insTATATATATATATATATGTA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751504	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	222	0.0045	20	c.118 others(37): Show c.1182-669_1182-668insTATATATATATATATATATA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0218 a0003c0003t0001g0219	2	222	0.0090	20	c.118 others(37): Show c.1182-673_1182-672insTATATATATATATATATACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	222	0.0045	20	c.118 others(37): Show c.1182-673_1182-672insTATATATACACACACACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9833608	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp2 NA19002.hp2 others(1): Show HG00544.hp1 HG01993.hp2 NA19002.hp2 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0045 a0003c0004 others(1): Show a0002c0002 a0002c0045 a0003c0004 a0003c0006	a0002c0002t0002 a0002c0045t0002 a0003c0004t0003 others(1): Show a0002c0002t0002 a0002c0045t0002 a0003c0004t0003 a0003c0006t0003	a0002c0002t0002g0141 a0002c0045t0002g0058 a0003c0004t0003g0099 others(1): Show a0002c0002t0002g0141 a0002c0045t0002g0058 a0003c0004t0003g0099 a0003c0006t0003g0158	4	256	0.0156	20	c.166 others(39): Show c.166-40025_166-40006dupTGTGTGTGTGTGTGTGTGTG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9875080	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01167.hp1 others(7): Show HG00639.hp2 HG01074.hp1 HG01167.hp1 HG01517.hp2 HG01934.hp1 HG02293.hp1 HG02486.hp1 HG02572.hp1 HG04228.hp1 NA19070.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0002c0011 a0019c0027 a0001c0001 a0002c0011 a0019c0027	a0001c0001t0001 a0002c0011t0002 a0002c0011t0003 others(1): Show a0001c0001t0001 a0002c0011t0002 a0002c0011t0003 a0019c0027t0002	a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0092 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0203 a0001c0001t0001g0225 a0002c0011t0002g0084 a0002c0011t0003g0123 a0019c0027t0002g0025	10	256	0.0391	20	c.317 others(37): Show c.317+1288_317+1307dupAAAAAAAAAAAAAAAAAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9908944	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(67): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01081.hp1 HG01123.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18977.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19083.hp1 NA19085.hp1 NA19088.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0007 a0014 a0015 a0020 a0023 a0039 a0043	a0001c0001 a0001c0003 a0001c0007 others(17): Show a0001c0001 a0001c0003 a0001c0007 a0001c0048 a0001c0081 a0002c0002 a0002c0005 a0002c0016 a0002c0045 a0002c0047 a0003c0004 a0003c0006 a0005c0059 a0007c0014 a0014c0072 a0015c0069 a0020c0062 a0023c0061 a0039c0068 a0043c0074	a0001c0001t0001 a0001c0001t0018 a0001c0001t0022 others(20): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0003t0001 a0001c0007t0001 a0001c0048t0001 a0001c0081t0001 a0002c0002t0002 a0002c0005t0002 a0002c0016t0007 a0002c0045t0002 a0002c0047t0002 a0003c0004t0003 a0003c0006t0003 a0005c0059t0010 a0007c0014t0003 a0014c0072t0001 a0015c0069t0001 a0020c0062t0002 a0023c0061t0001 a0039c0068t0029 a0043c0074t0003	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0047 others(67): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0081 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0249 a0001c0001t0018g0098 a0001c0001t0022g0046 a0001c0001t0025g0224 a0001c0003t0001g0021 a0001c0003t0001g0073 a0001c0003t0001g0091 a0001c0003t0001g0107 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0146 a0001c0003t0001g0149 a0001c0003t0001g0157 a0001c0003t0001g0165 a0001c0003t0001g0184 a0001c0007t0001g0049 a0001c0048t0001g0171 a0001c0081t0001g0066 a0002c0002t0002g0005 a0002c0002t0002g0032 a0002c0002t0002g0054 a0002c0002t0002g0083 a0002c0002t0002g0086 a0002c0002t0002g0141 a0002c0002t0002g0228 a0002c0005t0002g0042 a0002c0005t0002g0055 a0002c0005t0002g0061 a0002c0005t0002g0104 a0002c0005t0002g0108 a0002c0016t0007g0159 a0002c0045t0002g0058 a0002c0047t0002g0154 a0003c0004t0003g0020 a0003c0004t0003g0030 a0003c0004t0003g0050 a0003c0004t0003g0160 a0003c0004t0003g0169 a0003c0004t0003g0178 a0003c0006t0003g0150 a0003c0006t0003g0158 a0003c0006t0003g0163 a0003c0006t0003g0164 a0003c0006t0003g0166 a0003c0006t0003g0167 a0005c0059t0010g0101 a0007c0014t0003g0186 a0014c0072t0001g0078 a0015c0069t0001g0007 a0020c0062t0002g0246 a0023c0061t0001g0155 a0039c0068t0029g0182 a0043c0074t0003g0187	70	256	0.2734	20	c.289 others(41): Show c.2891+10666_2891+10685dupTAAATAAATAAATAAATAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9908972	T T	TAAATAAA others(13): Show TAAATAAATAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0048 a0048	a0048c0071 a0048c0071	a0048c0071t0015 a0048c0071t0015	a0048c0071t0015g0082 a0048c0071t0015g0082	1	256	0.0039	20	c.289 others(41): Show c.2891+10685_2891+10686insTAAATAATAAATAAATAAAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76503167	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG03516.hp2 others(2): Show HG01891.hp2 HG02055.hp1 HG03516.hp2 NA18982.hp1 NA19064.hp2	a0002 a0004 a0008 others(1): Show a0002 a0004 a0008 a0010	a0002c0003 a0004c0004 a0004c0022 others(2): Show a0002c0003 a0004c0004 a0004c0022 a0008c0007 a0010c0014	a0002c0003t0001 a0004c0004t0001 a0004c0022t0007 others(2): Show a0002c0003t0001 a0004c0004t0001 a0004c0022t0007 a0008c0007t0007 a0010c0014t0001	a0002c0003t0001g0125 a0004c0004t0001g0101 a0004c0022t0007g0158 others(2): Show a0002c0003t0001g0125 a0004c0004t0001g0101 a0004c0022t0007g0158 a0008c0007t0007g0137 a0010c0014t0001g0039	5	218	0.0229	20	c.169 others(39): Show c.169-52431_169-52412dupCACACACACACACACACACA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76547932	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01070.hp1 HG02071.hp1 others(6): Show HG00673.hp2 HG01070.hp1 HG02071.hp1 NA18946.hp2 NA18962.hp2 NA18979.hp2 NA18989.hp1 NA19082.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0008 a0001c0001 a0002c0003 a0004c0008	a0001c0001t0002 a0002c0003t0001 a0002c0003t0010 others(1): Show a0001c0001t0002 a0002c0003t0001 a0002c0003t0010 a0004c0008t0001	a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0124 others(6): Show a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0002g0142 a0001c0001t0002g0159 a0001c0001t0002g0173 a0002c0003t0001g0178 a0002c0003t0010g0077 a0004c0008t0001g0070	9	218	0.0413	20	c.169 others(37): Show c.169-7668_169-7649dupACACACACACACACACACAC	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76565160	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG03209.hp2 others(1): Show HG02451.hp1 HG02615.hp1 HG03209.hp2 NA20129.hp2	a0001 a0003 a0015 a0001 a0003 a0015	a0001c0015 a0003c0020 a0015c0025 a0001c0015 a0003c0020 a0015c0025	a0001c0015t0009 a0003c0020t0001 a0015c0025t0006 a0001c0015t0009 a0003c0020t0001 a0015c0025t0006	a0001c0015t0009g0059 a0001c0015t0009g0111 a0003c0020t0001g0058 others(1): Show a0001c0015t0009g0059 a0001c0015t0009g0111 a0003c0020t0001g0058 a0015c0025t0006g0095	4	218	0.0184	20	c.323 others(37): Show c.323+9400_323+9419dupAAAAAAAAAAAAAAAAAAAA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(13): Show TAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0004	a0006c0005t0004g0050 a0006c0005t0004g0050	1	218	0.0046	20	c.323 others(39): Show c.323+52984_323+52985insTAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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