Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

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
SH3TC1_chr4_8194290_8246103	8234105	T T	TCACCTGT others(44): Show TCACCTGTTGATCCTTCCATCATCCATCCATTTATCCATTCATCCATCCA TC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03704.hp1 HG03942.hp1 others(2): Show HG02896.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1	a0002 a0004 a0002 a0004	a0002c0012 a0004c0016 a0004c0088 a0002c0012 a0004c0016 a0004c0088	a0002c0012t0001 a0004c0016t0001 a0004c0016t0002 others(1): Show a0002c0012t0001 a0004c0016t0001 a0004c0016t0002 a0004c0088t0004	a0002c0012t0001g0015 a0004c0016t0001g0049 a0004c0016t0001g0228 others(2): Show a0002c0012t0001g0015 a0004c0016t0001g0049 a0004c0016t0001g0228 a0004c0016t0002g0078 a0004c0088t0004g0344	5	374	0.0134	51	c.328 others(68): Show c.3282+595_3282+645dupCCTGTTGATCCTTCCATCATCCATCCAT TTATCCATTCATCCATCCATCCA	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA9_chr16_12896598_13245416	13015963	T T	TCCTTTCC others(44): Show TCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG01433.hp1 others(15): Show HG01167.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp1 HG02055.hp2 HG02486.hp2 HG02698.hp2 HG02738.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0040 a0001c0001t0047 a0001c0001t0049 a0001c0001t0079 a0001c0001t0084 a0001c0001t0085 a0001c0001t0094 a0001c0002t0013	a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0003g0180 others(15): Show a0001c0001t0001g0089 a0001c0001t0002g0003 a0001c0001t0003g0180 a0001c0001t0011g0126 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0052 a0001c0001t0028g0137 a0001c0001t0029g0001 a0001c0001t0037g0157 a0001c0001t0040g0113 a0001c0001t0047g0174 a0001c0001t0049g0074 a0001c0001t0079g0164 a0001c0001t0084g0151 a0001c0001t0085g0168 a0001c0001t0094g0101 a0001c0002t0013g0124	18	214	0.0841	51	c.691 others(70): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9823150	T T	TCCCTTCT others(44): Show TCCCTTCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCT TC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp1 HG02451.hp1 HG03579.hp1	a0004 a0023 a0004 a0023	a0004c0023 a0023c0031 a0004c0023 a0023c0031	a0004c0023t0008 a0023c0031t0001 a0004c0023t0008 a0023c0031t0001	a0004c0023t0008g0254 a0023c0031t0001g0128 a0004c0023t0008g0254 a0023c0031t0001g0128	2	256	0.0078	51	c.165 others(70): Show c.165+36440_165+36441insCCCTTCTCCTTCTCCCTTCTCCTTCT CCCTTCTCCTTCTCCCTTCTCCTTC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SIK2_chr11_111597449_111735855	111603492	T T	TACTCATA others(44): Show TACTCATAAAGCCCTCAACTGCTTCCTGACGGTGAATCCTGCACCCTCTT CA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0098 a0001c0001t0028g0098	1	198	0.0051	51	c.135 others(66): Show c.135+795_135+845dupACTCATAAAGCCCTCAACTGCTTCCTGACG GTGAATCCTGCACCCTCTTCA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIL1_chr5_138941724_139203368	139200839	T T	TAAAAATG others(44): Show TAAAAATGGTCAGGTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	200	0.0050	51	c.-25 others(62): Show c.-2582_-2581insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TCAACCTGACCATTTTT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding		2472		chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306172	G G	GCCCCCTG others(44): Show GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp2 NA18522.hp2 HG02280.hp1 HG03041.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354	3	360	0.0083	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGTCAGCCCCC CC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	360	0.0028	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTAGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(223): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011	a0001c0001 a0001c0010 a0002c0002 others(8): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0014 a0003c0004 a0004c0006 a0005c0005 a0008c0009 a0010c0012 a0011c0013	a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0010t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0014t0002 a0003c0004t0001 a0004c0006t0002 a0005c0005t0001 a0008c0009t0001 a0010c0012t0001 a0011c0013t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(223): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0360 a0001c0001t0004g0151 a0001c0010t0001g0036 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0298 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0334 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0358 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0328 a0002c0014t0002g0331 a0003c0004t0001g0355 a0003c0004t0001g0356 a0003c0004t0001g0357 a0004c0006t0002g0330 a0004c0006t0002g0332 a0004c0006t0002g0333 a0004c0006t0002g0335 a0005c0005t0001g0161 a0005c0005t0001g0162 a0005c0005t0001g0163 a0005c0005t0001g0164 a0008c0009t0001g0039 a0008c0009t0001g0135 a0010c0012t0001g0060 a0011c0013t0001g0016	226	360	0.6278	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306190	C C	CGCCCCGT others(44): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	360	0.0028	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCTGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306299	G G	GCCCCCTG others(44): Show GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18949.hp2 HG03130.hp1 NA18949.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0016 a0002c0002 a0003c0016	a0002c0002t0002 a0003c0016t0001 a0002c0002t0002 a0003c0016t0001	a0002c0002t0002g0312 a0003c0016t0001g0348 a0002c0002t0002g0312 a0003c0016t0001g0348	2	360	0.0056	51	c.173 others(70): Show c.1735-7387_1735-7386insTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	292	0.0034	51	c.46+ others(68): Show c.46+16551_46+16552insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0050	1	292	0.0034	51	c.46+ others(68): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A6_chr4_86818468_86854384	86842874	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	350	0.0029	51	c.377 others(68): Show c.377+5864_377+5865insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34310562	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTC AA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0030 a0001c0003t0030	a0001c0003t0030g0006 a0001c0003t0030g0006	1	274	0.0037	51	c.271 others(70): Show c.271+25847_271+25848insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34310783	T T	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTC AA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0255 a0001c0002t0002g0255	1	274	0.0037	51	c.271 others(70): Show c.271+25626_271+25627insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070037	C C	CCCCAGTG others(44): Show CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19091.hp1 NA19074.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0002t0008g0099 a0002c0002t0008g0100	2	118	0.0170	51	c.224 others(70): Show c.2241+3595_2241+3596insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071576	C C	CCCCCAGT others(44): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	118	0.0085	51	c.224 others(70): Show c.2241+2056_2241+2057insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071863	C C	CAGCCCCA others(44): Show CAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAG TG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0024 a0001c0010t0005g0024	1	118	0.0085	51	c.224 others(70): Show c.2241+1769_2241+1770insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071866	C C	CCCCCAGT others(44): Show CCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGC AG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19030.hp1 HG02622.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0038 a0001c0007 a0002c0038	a0001c0007t0012 a0002c0038t0014 a0001c0007t0012 a0002c0038t0014	a0001c0007t0012g0001 a0002c0038t0014g0118 a0001c0007t0012g0001 a0002c0038t0014g0118	2	118	0.0170	51	c.224 others(70): Show c.2241+1766_2241+1767insCTGCATAAGTGTGATGCCGTGTGCTG GGGGCTCACTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071931	G G	GGCATCAC others(44): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCAC AC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0080 a0002c0008t0004g0080	1	118	0.0085	51	c.224 others(70): Show c.2241+1701_2241+1702insGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCTGCATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072986	C C	CCCCAGTG others(44): Show CCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0074 a0002c0012t0003g0074	1	118	0.0085	51	c.224 others(68): Show c.2241+646_2241+647insCTGCATAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTCACTGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073283	G G	GGCATCAC others(44): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCAC AC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0012 a0001c0007t0012	a0001c0007t0012g0001 a0001c0007t0012g0001	1	118	0.0085	51	c.224 others(68): Show c.2241+349_2241+350insGTGTGCTGGGGGCTCACTGGGGGCTCAC TGGGGGCTGCATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC14A2_chr18_45610476_45688688	45675710	T T	TATCTATA others(44): Show TATCTATATATATATATATATATATATATATATATATCTATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0004 a0006c0007t0004	a0006c0007t0004g0074 a0006c0007t0004g0074	1	402	0.0025	51	c.251 others(70): Show c.2512+1893_2512+1894insATCTATATATATATATATATATATAT ATATATATATCTATATATATATATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	18/19			chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45675710	T T	TATCTATA others(44): Show TATCTATATATATATATATATATATCTATATATATATCTATATATATATA TA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0333 a0001c0002t0004g0333	1	402	0.0025	51	c.251 others(70): Show c.2512+1893_2512+1894insATCTATATATATATATATATATATCT ATATATATATCTATATATATATATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	18/19			chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74439161	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02897.hp1 HG03209.hp1 others(1): Show HG00323.hp1 HG02897.hp1 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0222 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227	4	235	0.0170	51	c.430 others(70): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439165	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp2 HG02109.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0117 a0001c0001t0009g0201 a0001c0001t0003g0117 a0001c0001t0009g0201	2	235	0.0085	51	c.430 others(70): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439169	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02257.hp2 HG02273.hp1 others(1): Show HG01516.hp1 HG02257.hp2 HG02273.hp1 HG04228.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0082 a0002c0002t0001g0028 a0002c0002t0002g0085 others(1): Show a0001c0001t0001g0082 a0002c0002t0001g0028 a0002c0002t0002g0085 a0003c0004t0001g0216	4	235	0.0170	51	c.430 others(70): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A4_chr1_110357857_110396026	110380058	C C	CAAAAAAA others(44): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	432	0.0023	51	c.527 others(66): Show c.527-703_527-702insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT	SLC16A4	ENSG00000168679.18	transcript	ENST00000369779.9	protein_coding	5/8			chr1	TogoVar
SLC17A5_chr6_73588379_73658992	73601441	G G	GCCCTGTC others(44): Show GCCCTGTCCGGGAGGGAGGTGGGGGGGGGTCAGCACCCCGCCTGGCCAGC CA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	324	0.0031	51	c.126 others(70): Show c.1260-1001_1260-1000insTGGCTGGCCAGGCGGGGTGCTGACCC CCCCCCACCTCCCTCCCGGACAGGG	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792225	C C	CGAAAGAA others(44): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	304	0.0033	51	c.184 others(68): Show c.184-1954_184-1953insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC18B1_chr6_132764370_132803637	132792280	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAA GG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	304	0.0033	51	c.184 others(68): Show c.184-2009_184-2008insCCTTCCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	SLC18B1	ENSG00000146409.12	transcript	ENST00000275227.9	protein_coding	2/13			chr6	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(44): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTT TT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	350	0.0029	51	c.864 others(66): Show c.864+641_864+642insAAAAAAGAAAGAAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826853	C C	CCTTCCTT others(44): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTTTTCT TT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0233 a0001c0006t0004g0233	1	350	0.0029	51	c.864 others(66): Show c.864+641_864+642insAAAGAAAAAAGAAAGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAG	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC2A14_chr12_7807514_7877915	7826854	C C	CTTCCTTC others(44): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02572.hp2 HG03831.hp2 others(2): Show HG00544.hp1 HG02572.hp2 HG03831.hp2 NA19030.hp2 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0004 a0001c0003t0001 a0001c0006t0004	a0001c0003t0001g0047 a0001c0003t0001g0186 a0001c0003t0001g0222 others(2): Show a0001c0003t0001g0047 a0001c0003t0001g0186 a0001c0003t0001g0222 a0001c0003t0001g0329 a0001c0006t0004g0161	5	350	0.0143	51	c.864 others(66): Show c.864+640_864+641insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAA	SLC2A14	ENSG00000173262.12	transcript	ENST00000431042.7	protein_coding	7/10			chr12	TogoVar
SLC35F3_chr1_233899676_234329511	234308577	T T	TCCCCAGA others(44): Show TCCCCAGAGTATCCATCCTCCTCCATTACCGTCCTTCTCCCACAACCCCC AC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01261.hp1 others(41): Show HG00438.hp2 HG00738.hp2 HG01261.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03492.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18974.hp1 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA19030.hp2 NA19065.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0003t0002 a0001c0004t0001 a0003c0006t0004	a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0047 others(41): Show a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0009g0084 a0001c0001t0010g0116 a0001c0001t0011g0044 a0001c0002t0002g0027 a0001c0002t0002g0097 a0001c0002t0002g0125 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0004g0010 a0001c0002t0004g0014 a0001c0002t0004g0016 a0001c0002t0005g0119 a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0004t0001g0051 a0001c0004t0001g0107 a0003c0006t0004g0017	44	158	0.2785	51	c.609 others(66): Show c.609-418_609-368dupCAGAGTATCCATCCTCCTCCATTACCGTCC TTCTCCCACAACCCCCACCCC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC35F3_chr1_233899676_234329511	234308625	C C	CCACCCCC others(44): Show CCACCCCCAGAGTATCCATCCTCCTCCATTACCGTCCTTCTCCCACAACC CG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	158	0.0063	51	c.609 others(66): Show c.609-426_609-425insGCACCCCCAGAGTATCCATCCTCCTCCATT ACCGTCCTTCTCCCACAACCC	SLC35F3	ENSG00000183780.13	transcript	ENST00000366618.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(44): Show ATGTCATGCGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	356	0.0028	51	c.142 others(70): Show c.1423+1667_1423+1668insCGGCGGGCAGGGTGGCCGTTGTCATG CGACACACGGCCTGGTTCTGAGAAG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570073	A A	ATGTCATG others(44): Show ATGTCATGTGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCC GT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01884.hp2 others(15): Show HG01257.hp2 HG01258.hp2 HG01884.hp2 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp2 NA18970.hp1 NA18983.hp1 NA19074.hp1 NA19081.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0003 a0001c0001t0001g0110 a0001c0001t0001g0225 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0110 a0001c0001t0001g0225 a0001c0001t0006g0045 a0001c0001t0008g0034 a0001c0001t0013g0029 a0001c0001t0013g0030 a0001c0001t0013g0125 a0001c0001t0013g0228 a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0019g0006 a0001c0001t0019g0038	18	356	0.0506	51	c.142 others(70): Show c.1423+1642_1423+1643insTGACACACGGCCTGGTTCTGAGAAGC GGCGGGCAGGGTGGCCGTTGTCATG	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570132	T T	TGACACAC others(44): Show TGACACACGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCGTTGTCAT GC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG00323.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0107 a0001c0001t0043g0103 a0001c0001t0001g0107 a0001c0001t0043g0103	2	356	0.0056	51	c.142 others(70): Show c.1423+1735_1423+1736insGTTGTCATGCGACACACGGCCTGGTT CTGAGAAGCGGCGGGCAGGGTGGCC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570139	C C	CGGCCTGG others(44): Show CGGCCTGGTTCTGAGAAGCGGCGGGCAGGGTGGCCATTGCCATGTGACAC AT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0129 a0002c0002t0003g0130	2	356	0.0056	51	c.142 others(70): Show c.1423+1723_1423+1773dupGGGCAGGGTGGCCATTGCCATGTGAC ACATGGCCTGGTTCTGAGAAGCGGC	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
SLC37A1_chr21_42508852_42586426	42570173	C C	CGTTGTCA others(44): Show CGTTGTCATGCGACACACGGCCTGGTTCTGAGAAGTGGTGGGCAGGGTGG CT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp1 HG02559.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0019 a0001c0003t0015g0019	2	356	0.0056	51	c.142 others(70): Show c.1423+1735_1423+1736insGTTGTCATGCGACACACGGCCTGGTT CTGAGAAGTGGTGGGCAGGGTGGCT	SLC37A1	ENSG00000160190.14	transcript	ENST00000352133.3	protein_coding	17/19			chr21	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAGAAAGAAA GA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	370	0.0027	51	c.274 others(68): Show c.274-8214_274-8213insTCTTTCTTTCTTCTTTCTCTTTCTTTCT TTTCTTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC43A3_chr11_57401954_57432121	57403470	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	330	0.0030	51	c.43 others(62): Show c.4321_*4322insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3483		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403523	G G	GGAGGAAG others(44): Show GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0121 a0001c0010t0006g0121	1	330	0.0030	51	c.42 others(62): Show c.4268_*4269insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCCTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3430		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01167.hp2 HG00741.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0191 a0001c0001t0002g0038 a0001c0001t0002g0191	2	330	0.0061	51	c.42 others(62): Show c.4259_*4260insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403532	G G	GGAAGAAG others(44): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAG AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	330	0.0030	51	c.42 others(62): Show c.4259_*4260insTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3421		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403535	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	51	c.42 others(62): Show c.4256_*4257insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3418		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403547	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	330	0.0030	51	c.42 others(62): Show c.4244_*4245insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3406		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403553	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18964.hp1 NA18955.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0001t0001g0001 a0001c0001t0002g0008	2	330	0.0061	51	c.42 others(62): Show c.4238_*4239insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3400		chr11	TogoVar
SLC43A3_chr11_57401954_57432121	57403559	A A	AGAAGAAG others(44): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	51	c.42 others(62): Show c.4232_*4233insCTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTC	SLC43A3	ENSG00000134802.18	transcript	ENST00000395124.6	protein_coding		3394		chr11	TogoVar

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