Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02300.hp1 HG01074.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	330	0.0061	51	c.42 others(62): Show c.4229_*4230insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	51	c.42 others(62): Show c.4229_*4230insCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403562	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	330	0.0030	51	c.42 others(62): Show c.4229_*4230insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3391		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403571	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	330	0.0030	51	c.42 others(62): Show c.4220_*4221insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3382		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403580	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	330	0.0030	51	c.42 others(62): Show c.4211_*4212insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3373		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203410	A A	AGAGAGGG others(44): Show AGAGAGGGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0011 a0001c0017t0001g0011	1	188	0.0053	51	c.81 others(62): Show c.8161_*8162insCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCT CTCTCTCTCTCCCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3763		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203455	G G	GGAGAGAG others(44): Show GGAGAGAGGGAGAGGGAGACCATGGAGAGAGAGAGAGAGAGAGAGAGGGA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG02965.hp1 HG01169.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0016 a0001c0003 a0001c0016	a0001c0003t0001 a0001c0016t0016 a0001c0003t0001 a0001c0016t0016	a0001c0003t0001g0057 a0001c0016t0016g0001 a0001c0003t0001g0057 a0001c0016t0016g0001	2	188	0.0106	51	c.81 others(62): Show c.8116_*8117insTCTCCCTCTCTCTCTCTCTCTCTCTCTCCATGGT CTCCCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3718		chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28719380	A A	AGTTAGCG others(44): Show AGTTAGCGGAGGGTTGGAATGTGGTCGCTGGCTTTTCCTGGGGAGGGGAG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	426	0.0024	51	c.-91 others(60): Show c.-910_-909insCCCTCCCCTCCCCAGGAAAAGCCAGCGACCACATTC CAACCCTCCGCTAAC	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding		411		chr13	TogoVar
SLC6A15_chr12_84854491_84917799	84910925	T T	TCTCTCTC others(44): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0196 a0001c0002t0004g0196	1	218	0.0046	51	c.-18 others(70): Show c.-189+1597_-189+1598insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAG	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC7A8_chr14_23120295_23188660	23130028	A A	ATGGCACG others(44): Show ATGGCACGGGCACTAACCAATTAGAATGGATACTGGACATAAGCAGCTAG AC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0319 a0001c0001t0026g0319	1	392	0.0026	51	c.111 others(68): Show c.1114-230_1114-229insGTCTAGCTGCTTATGTCCAGTATCCATT CTAATTGGTTAGTGCCCGTGCCA	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	8/10			chr14	TogoVar
SLC9A2_chr2_102614553_102716355	102695781	T T	TATATATA others(44): Show TATATATATTATATATATAATATATATTATATATATATTATATATATATA TA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	344	0.0029	51	c.158 others(68): Show c.1586+686_1586+687insATATATATTATATATATATTATATATAT ATATAATATATATTATATATATA	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A8_chr20_49807828_49897242	49884274	G G	GACACACA others(44): Show GACACACACGACACACACACACACACACACACACACACACACACACACAC AC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	360	0.0028	51	c.149 others(68): Show c.1491+216_1491+217insGACACACACACACACACACACACACACA CACACACACACACACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143449512	A A	AATTATAT others(44): Show AATTATATAAAATAATTATATAAAATATAATAATTATATAATTATATAAA AT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01358.hp1 others(20): Show HG00438.hp1 HG00438.hp2 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG02083.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG04115.hp1 NA18906.hp2 NA18942.hp1 NA18950.hp1 NA18955.hp2 NA18966.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0017 a0001c0003t0003 a0001c0003t0004 a0001c0004t0012	a0001c0001t0001g0082 a0001c0001t0002g0044 a0001c0001t0002g0048 others(20): Show a0001c0001t0001g0082 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0069 a0001c0001t0003g0001 a0001c0001t0003g0030 a0001c0001t0004g0040 a0001c0001t0005g0090 a0001c0001t0011g0029 a0001c0002t0002g0063 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0061 a0001c0002t0004g0015 a0001c0002t0007g0094 a0001c0002t0008g0039 a0001c0002t0014g0014 a0001c0002t0017g0010 a0001c0003t0003g0021 a0001c0003t0004g0095 a0001c0004t0012g0101	23	108	0.2130	51	c.146 others(72): Show c.1469+17524_1469+17525insATTTTATATAATTATATAATTATT ATATTTTATATAATTATTTTATATAAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(44): Show TAGATAGATAGATGATAGATAGATTGATTGATTAGATAGATAGATAGATA GA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	190	0.0053	51	c.647 others(70): Show c.647-78627_647-78626insAGATAGATAGATGATAGATAGATTGA TTGATTAGATAGATAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92047630	A A	AAATATAT others(44): Show AAATATATATAATATATAAATATATATATAAATATATATATAATATATAT AT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01978.hp1 others(2): Show HG00280.hp1 HG00558.hp2 HG01978.hp1 HG02486.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0046 a0001c0001t0006g0169 a0001c0001t0008g0107 others(2): Show a0001c0001t0001g0046 a0001c0001t0006g0169 a0001c0001t0008g0107 a0001c0002t0002g0092 a0001c0002t0003g0072	5	190	0.0263	51	c.647 others(70): Show c.647-47243_647-47242insTAATATATAAATATATATATAAATAT ATATATAATATATATATAATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	169079819	A A	AGGAGGGA others(44): Show AGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGG AG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01109.hp1 others(8): Show HG00639.hp2 HG01081.hp2 HG01109.hp1 HG02109.hp2 HG02129.hp2 NA18970.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19066.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0016 a0001c0020 a0002c0002 a0002c0005 a0002c0012	a0001c0001t0001 a0001c0003t0017 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0003t0017 a0001c0007t0001 a0001c0009t0003 a0001c0009t0013 a0001c0016t0008 a0001c0020t0037 a0002c0002t0018 a0002c0005t0003 a0002c0005t0027 a0002c0012t0031	a0001c0001t0001g0041 a0001c0003t0017g0050 a0001c0007t0001g0040 others(8): Show a0001c0001t0001g0041 a0001c0003t0017g0050 a0001c0007t0001g0040 a0001c0009t0003g0117 a0001c0009t0013g0056 a0001c0016t0008g0080 a0001c0020t0037g0109 a0002c0002t0018g0105 a0002c0005t0003g0114 a0002c0005t0027g0030 a0002c0012t0031g0077	11	132	0.0833	51	c.413 others(72): Show c.413+113659_413+113660insCTCCTCCTCCTCCCTCCCTCCTCC TCCTCCCTCCCTCCTCCTCCTCCCTCC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCCAGCGGTGGGGCCCTGCGTCCGGGCCTCGGGAGCCTGTC CT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18973.hp2 NA19066.hp1 NA18964.hp2 NA18973.hp2 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209	3	334	0.0090	51	c.284 others(68): Show c.284-6654_284-6653insAGCGGTGGGGCCCTGCGTCCGGGCCTCG GGAGCCTGTCCTGCACCATCCCC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCCGGCGGTAGGGCCCTGCGTCCGGGCCTCGGGAGCCTATC CT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0120 a0003c0003t0001g0120	1	334	0.0030	51	c.284 others(68): Show c.284-6648_284-6647insAGGGCCCTGCGTCCGGGCCTCGGGAGCC TATCCTGCACCATCCCCGGCGGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCCGGCGGTAGGGCCCTGCGTCCGGGCCTCGGGAGCCTGTC CT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02257.hp1 others(14): Show HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0134 a0001c0001t0001g0138 others(13): Show a0001c0001t0001g0048 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0003c0003t0001g0029 a0003c0003t0001g0047 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0135	17	334	0.0509	51	c.284 others(68): Show c.284-6648_284-6647insAGGGCCCTGCGTCCGGGCCTCGGGAGCC TGTCCTGCACCATCCCCGGCGGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCCGGCGGTGGGGCCCTGCGTCCGGACCTCGGGAGCCTGTC CT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01884.hp1 others(6): Show HG01109.hp1 HG01167.hp1 HG01884.hp1 HG02257.hp2 HG02630.hp1 HG02647.hp2 HG03471.hp1 HG03486.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0143 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0143 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0203 a0003c0003t0001g0142	9	334	0.0270	51	c.284 others(68): Show c.284-6632_284-6631insACCTCGGGAGCCTGTCCTGCACCATCCC CGGCGGTGGGGCCCTGCGTCCGG	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCCGGCGGTGGGGCCCTGCGTCCGGGCCTCGGGAGCCTGTC CT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(101): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp2 NA18971.hp1 NA18980.hp2 NA18999.hp2 NA19000.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 others(72): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0200 a0002c0002t0001g0002 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0003c0003t0001g0016 a0003c0003t0001g0181 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0004c0004t0001g0017 a0004c0004t0001g0042 a0004c0004t0001g0219 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225	104	334	0.3114	51	c.284 others(68): Show c.284-6637_284-6587dupGTCCGGGCCTCGGGAGCCTGTCCTGCAC CATCCCCGGCGGTGGGGCCCTGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953435	G G	GGCACCAT others(44): Show GGCACCATCCCTGGCGGTGGGGCCCTGCGTCCGGGCCTCGGGAGCCTGTC CT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	334	0.0030	51	c.284 others(68): Show c.284-6655_284-6654insTGGCGGTGGGGCCCTGCGTCCGGGCCTC GGGAGCCTGTCCTGCACCATCCC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLX9_chr21_44935029_44981973	44953498	G G	GGCGGTGG others(44): Show GGCGGTGGGGCCCTGCGTCCGGGCCTCGGGAGCCTGTCCTGCACCATCCC CC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	334	0.0030	51	c.284 others(68): Show c.284-6587_284-6586insGTCCGGGCCTCGGGAGCCTGTCCTGCAC CATCCCCCGCGGTGGGGCCCTGC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
SMOC2_chr6_168436184_168672992	168592650	G G	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCGTCTTTCTAGAGGAT CT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG01884.hp1 others(29): Show HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp1 HG02135.hp2 HG02572.hp1 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18960.hp1 NA18963.hp2 NA18971.hp2 NA18983.hp2 NA18990.hp2 NA19012.hp1 NA19030.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 others(29): Show a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0003g0090 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0004g0129 a0001c0001t0011g0119 a0001c0001t0015g0163 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0180 a0001c0002t0007g0016	32	180	0.1778	51	c.638 others(68): Show c.638-6167_638-6166insCGAGCTCCTCCTCCTTCCTGAGGCCTCA CGGGCGTCTTTCTAGAGGATCTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592736	A A	ATCTTTCT others(44): Show ATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGG CG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	180	0.0056	51	c.638 others(68): Show c.638-6067_638-6066insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCGTCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592803	T T	TCCGAGCT others(44): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG01884.hp1 others(30): Show HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02083.hp1 HG02135.hp2 HG02572.hp1 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18960.hp1 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19012.hp1 NA19030.hp1 NA19079.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007	a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 others(30): Show a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0003g0090 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0004g0129 a0001c0001t0011g0119 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0180 a0001c0002t0007g0016	33	180	0.1833	51	c.638 others(68): Show c.638-5966_638-5965insGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592841	T T	TTTCTAGA others(44): Show TTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCAT CG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	180	0.0056	51	c.638 others(68): Show c.638-5966_638-5965insGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCGTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592907	C C	CGAGCTCC others(44): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCG CT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp1 others(12): Show HG00609.hp2 HG01069.hp1 HG01256.hp1 HG02004.hp1 HG02293.hp1 HG02897.hp1 HG06807.hp1 NA18612.hp2 NA18945.hp2 NA18990.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 others(12): Show a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0003g0087 a0001c0001t0003g0109 a0001c0001t0003g0171 a0001c0002t0002g0008	15	180	0.0833	51	c.638 others(68): Show c.638-5864_638-5863insCGCTGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168592907	C C	CGAGCTCC others(44): Show CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATTG CT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03209.hp2 HG01167.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0002 a0001c0011t0006 a0001c0002t0002 a0001c0011t0006	a0001c0002t0002g0043 a0001c0011t0006g0167 a0001c0002t0002g0043 a0001c0011t0006g0167	2	180	0.0111	51	c.638 others(68): Show c.638-5864_638-5863insTGCTGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593313	G G	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCGTTCTAGAGGAT CT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	180	0.0056	51	c.638 others(68): Show c.638-5468_638-5467insGTTCTAGAGGATCTCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGGGCATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593402	T T	GTTCTAGA others(44): Show GTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCAT CT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	180	0.0056	51	c.638 others(68): Show c.638-5417_638-5416insGTTCTAGAGGATCTCCGAGCTCCTCCTC CTTCCTGAGGCCTCACGGGCATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593415	T T	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02135.hp1 HG04184.hp2 others(3): Show HG01346.hp1 HG02135.hp1 HG04184.hp2 NA18951.hp1 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0002t0002g0006 a0001c0002t0002g0031	6	180	0.0333	51	c.638 others(68): Show c.638-5404_638-5403insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593415	T T	TCCGAGCT others(44): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	180	0.0056	51	c.638 others(68): Show c.638-5353_638-5303dupGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593466	G G	TCCGAGCT others(44): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT GG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	180	0.0056	51	c.638 others(68): Show c.638-5403_638-5353dupTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593519	C C	CGAGCTCC others(44): Show CGAGCTCCTCCTCCTTCCTGAGGCTTCACGGGCATCTTTCTAGAGGATCG CT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01496.hp1 others(3): Show HG00738.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 NA18960.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0096 a0001c0001t0001g0157 a0001c0002t0002g0007 others(3): Show a0001c0001t0001g0096 a0001c0001t0001g0157 a0001c0002t0002g0007 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0027	6	180	0.0333	51	c.638 others(68): Show c.638-5276_638-5275insTTCACGGGCATCTTTCTAGAGGATCGCT GAGCTCCTCCTCCTTCCTGAGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593619	G G	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01256.hp1 others(47): Show HG00609.hp2 HG01069.hp1 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02135.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03579.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA19012.hp1 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0012 others(1): Show a0001c0001 a0001c0002 a0002c0012 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0002c0012t0010 a0005c0010t0001	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(47): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0003g0171 a0001c0001t0004g0129 a0001c0001t0011g0119 a0001c0002t0002g0008 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0023 a0001c0002t0002g0038 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0060 a0001c0002t0002g0064 a0001c0002t0002g0180 a0001c0002t0007g0016 a0002c0012t0010g0076 a0005c0010t0001g0130	50	180	0.2778	51	c.638 others(68): Show c.638-5067_638-5017dupCGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCCTCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593720	C C	CGCCGAGC others(44): Show CGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	180	0.0056	51	c.638 others(68): Show c.638-5098_638-5097insGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12			chr6	TogoVar
SMOC2_chr6_168436184_168672992	168593822	G G	GGCCGAGC others(44): Show GGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02559.hp2 HG02922.hp2 others(2): Show HG02074.hp2 HG02559.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0142 a0001c0001t0003g0169 a0001c0002t0002g0034 others(2): Show a0001c0001t0001g0142 a0001c0001t0003g0169 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0004t0005g0049	5	180	0.0278	51	c.638 others(68): Show c.638-4961_638-4960insATCTTTCTAGAGGATCGCCGAGCTCCTC CTCCTTCCTGAGGCCTCACGGGC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594183	T T	TCCGAGCT others(44): Show TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGCATCTTTCTAGAGGAT CG	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18971.hp2 NA18990.hp2 others(1): Show HG01952.hp2 NA18971.hp2 NA18990.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0092 a0001c0001t0001g0143 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0002t0002g0014	4	180	0.0222	51	c.638 others(68): Show c.638-4604_638-4603insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594376	C C	CATCTTTC others(44): Show CATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGA GT	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18963.hp2 HG03195.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0168 a0001c0001t0015g0163 a0001c0001t0001g0168 a0001c0001t0015g0163	2	180	0.0111	51	c.638 others(68): Show c.638-4427_638-4426insGGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGAGTATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594629	A A	AGCATCTT others(44): Show AGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCAC GG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0163 a0001c0001t0015g0163	1	180	0.0056	51	c.638 others(68): Show c.638-4172_638-4171insCGCCGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGAT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168594648	G G	GCCGAGCT others(44): Show GCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0077 a0001c0001t0001g0114	2	180	0.0111	51	c.638 others(68): Show c.638-4068_638-4018dupTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNAPC1_chr14_61757420_61801428	61762420	A A	AGAGGCGT others(44): Show AGAGGCGTGCGGGCTTCGGAGGCGTGCGGGCTTCGGAGGCGTGCGGGCTT CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(55): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01099.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02738.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03453.hp1 HG03579.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18959.hp2 NA18971.hp2 NA18979.hp2 NA18995.hp2 NA19003.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(51): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0014g0066 a0001c0001t0014g0067 a0001c0001t0015g0014 a0001c0001t0021g0094 a0001c0001t0022g0031 a0001c0001t0023g0097 a0001c0001t0024g0108 a0001c0001t0025g0098 a0001c0004t0002g0003	58	356	0.1629	51	c.-6_ others(56): Show c.-6_-5insAGGCGTGCGGGCTTCGGAGGCGTGCGGGCTTCGGAGGCGT GCGGGCTTCGG	SNAPC1	ENSG00000023608.5	transcript	ENST00000216294.5	protein_coding	1/10	5	INFO_REALIGN_3_PRIME	chr14	TogoVar
SNED1_chr2_240993618_241100568	241036053	T T	TGCGTCAC others(44): Show TGCGTCACGGGGTGGGGGTTGGGGGGGTGGAGGTGCGTCACGGGGTGGGG GC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	344	0.0029	51	c.806 others(66): Show c.806-730_806-729insGGGGTGGGGGTTGGGGGGGTGGAGGTGCGT CACGGGGTGGGGGCGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241036053	T T	TGCGTCAC others(44): Show TGCGTCACGGGGTGGGGGTTGGGGGGTGGAGGTGCGTCACGGGGTGGGGG GC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02135.hp2 HG02055.hp2 HG02135.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0009 a0003c0004t0007 a0001c0002t0009 a0003c0004t0007	a0001c0002t0009g0211 a0003c0004t0007g0006 a0001c0002t0009g0211 a0003c0004t0007g0006	2	344	0.0058	51	c.806 others(66): Show c.806-730_806-729insGGGGTGGGGGTTGGGGGGTGGAGGTGCGTC ACGGGGTGGGGGGCGCGTCAC	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNED1_chr2_240993618_241100568	241036065	T T	TGGGGGTT others(44): Show TGGGGGTTGGGGGGTGGAGGTGCGTCACGGGGTGGGGGCGCGTCACAGGG TG	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA19082.hp1 HG01175.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0048 a0001c0006t0001 a0001c0002t0048 a0001c0006t0001	a0001c0002t0048g0191 a0001c0006t0001g0258 a0001c0002t0048g0191 a0001c0006t0001g0258	2	344	0.0058	51	c.806 others(66): Show c.806-720_806-719insTTGGGGGGTGGAGGTGCGTCACGGGGTGGG GGCGCGTCACAGGGTGGGGGG	SNED1	ENSG00000162804.15	transcript	ENST00000310397.13	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNIP1_chr1_37529449_37559293	37535240	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0166 a0001c0001t0059g0166	1	394	0.0025	51	c.25 others(62): Show c.2507_*2508insATATATATATATATATATATATATATATATATAT ATATATATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2507		chr1	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(44): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0025 a0001c0001t0041g0025	1	106	0.0094	51	c.-10 others(72): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1221697	T T	TGTCTCTC others(44): Show TGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTC TC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0150	1	190	0.0053	51	c.719 others(70): Show c.719+12467_719+12468insGTCTCTCTCTGTCTCTCTCTGTCTCT GCCTCTCTCTGTCTCTGTCTCTCTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX29_chr16_11971734_12579287	12476383	A A	AAAAATAT others(44): Show AAAAATATATATATATATATATATATACATATATATATATATATATATAC AT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0095 a0001c0004t0095	a0001c0004t0095g0151 a0001c0004t0095g0151	1	176	0.0057	51	c.203 others(70): Show c.2038-1335_2038-1334insAAATATATATATATATATATATATAC ATATATATATATATATATATACATA	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar

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